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Title Author Type Date Words
Mycobacterium leprae folP1 gene mutations among dapsone resistant patients in Sudan. Musa, Hassan A. Aziz; Samaan, Mervet A.; Siddig, Hiba; Saeed, Mohammed Ibrahim Report Sep 1, 2021 2571
Multinational Study Identifies Sources Of Skull Stem Cells. Aug 16, 2021 611
Targeted Next-Generation Sequencing Identifies Molecular and Genetic Events in Dedifferentiated Chondrosarcoma. Lucas, Calixto-Hope G.; Grenert, James P.; Horvai, Andrew Report Aug 1, 2021 4825
Plasmodium falciparum kelch 13 Mutations, 9 Countries in Africa, 2014-2018. Schmedes, Sarah E.; Patel, Dhruviben; Dhal, Simran; Kelley, Julia; Svigel, Samaly S.; Dimbu, Pedro R Report Jul 1, 2021 4473
Telomerase Reverse Transcriptase Protein Expression Is More Frequent in Acral Lentiginous Melanoma Than in Other Types of Cutaneous Melanoma. Cho, Woo Cheal; Wang, Wei-Lien; Milton, Denai R.; Ingram, Davis R.; Nagarajan, Priyadharsini; Curry, Report Jul 1, 2021 5778
Association between PSEN1 p.E318G Variant and APOE Polymorphism and Alzheimer Disease in Turkish Patients/Turk Hastalarda PSEN1 p.E318G Varyanti ile APOE Polimorfizmi ve Alzheimer Hastaligi Arasindaki Iliski. Guven, Gamze; Hanagasi, Hasmet; Lohmann, Ebba; Unaltuna, Nihan Erginel; Gurvit, Hakan; Aslan, Rukiye Report Jun 1, 2021 4341
A Novel Molecular Indicator for Inhibitor Development in Haemophilia A. Isik, Esra; Mehdiyeva, Humay; Akgun, Bilcag; Kose, Timur; Kavakli, Kaan; Ozkinay, Ferda; Atik, Tahir Report Jun 1, 2021 3912
Rare heart condition killed my brother... now I want to save others; SISTER AIMS TO O HELP KIDS WITH HER RESEARCH. EXCLUSIVE BY AMANDA STOCKS May 30, 2021 1144
SARS-CoV-2 Spike Protein More Infectious. Apr 1, 2021 503
Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study. Urganci, Nafiye; Ozgenc, Funda; Kuloglu, Zarife; Yuksekkaya, Hasan; Sari, Sinan; Erkan, Tulay; Onal, Report Mar 1, 2021 7244
Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations. Isik, Esra; Onay, Huseyin; Atik, Tahir; Solmaz, Asli Ece; Terek, Demet, Demet; Gokben, Sarenur Report Jan 19, 2021 4585
The importance of Mediterranean fever gene in familial Mediterranean fever. Kehribar, Demet Yalcin; Ozgen, Metin Report Oct 1, 2020 2635
Use of the HRM Method in Quick Identification of [FecX.sup.O] Mutation in Highly Prolific Olkuska Sheep. Smolucha, Grzegorz; Piorkowska, Katarzyna; Ropka-Molik, Katarzyna; Sikora, Jacek May 1, 2020 3408
Whole Genome Sequencing for the Analysis of Drug Resistant Strains of Mycobacterium tuberculosis: A Systematic Review for Bedaquiline and Delamanid. Ramirez, Luisa Maria Nieto; Vargas, Karina Quintero; Diaz, Gustavo Report Mar 1, 2020 7087
Evaluation of SCD, ACACA and FASN Mutations: Effects on Pork Quality and Other Production Traits in Pigs Selected Based on RNA-Seq Results. Piorkowska, Katarzyna; Malopolska, Martyna; Ropka-Molik, Katarzyna; Szyndler-Nedza, Magdalena; Wiech Report Jan 1, 2020 9277
Role of FBXW7 in the quiescence of gefitinib-resistant lung cancer stem cells in EGFR-mutant non-small cell lung cancer. Hidayat, Moulid; Mitsuishi, Yoichiro; Takahashi, Fumiyuki; Tajima, Ken; Yae, Toshifumi; Miyahara, Ka Report Nov 1, 2019 6777
Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation. Masmali, Ali; Alkanaan, Aljoharah; Alkatan, Hind M.; Almutairi, Omar KiraAbdullah Ayidh; Almubrad, T Sep 30, 2019 3774
Are Mutants Real? Scientists Say Yes And Why. Darwin Malicdem Sep 26, 2019 392
Gene Mutations That Cause Left-Handedness Identified. Sep 9, 2019 426
Conformational Changes in Wild Type KRAS Induced by Two Novel Variants p.E31K and p.G138V. Murtaza, Bibi Nazia; Qayum, Azhar; Nadeem, Shamaila Inayat; Al-Maliki, Naif Awdh; Alamri, Abdulaziz; Report Aug 31, 2019 3764
Short Communication - Identification of Mutations in Gene BRCA1/2 in Breast Cancer Cases from Balochistan, Pakistan. Yousafzai, Asma; Luqman, Muhammad; Ahmed, Nisar; Arbab, Muneeza; Murad, Muhammad; Sajjad, Naheed; Na Report Aug 31, 2019 2052
How latent viruses cause breast cancer: An explanation based on the microcompetition model. Polansky, Hanan; Schwab, Hava Report Aug 1, 2019 3813
Frequency of Alpha Thalassaemia in homozygous Beta Thalassaemia paediatric patients and its clinical impact at a blood disease centre in Karachi, Pakistan. Report Jul 31, 2019 3369
Co-existing iron deficiency/overload in beta-thalassemia trait. Report Jun 30, 2019 2934
China gene babies' mutation linked to higher mortality: study. Jun 4, 2019 526
DNA discovery gives hope; Dogs: Study shows link between gene and breathing woes in certain breeds. May 17, 2019 250
This genetic mutation makes people feel full. May 8, 2019 1125
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report. Moghanloo, Ehsan; Morovvati, Ziba; Seifi, Maghsoud; Minoochehr, Fatemeh; Morovvati, Saeid; Teimouria Report May 1, 2019 1446
Urinary Bladder Pathology: World Health Organization Classification and American Joint Committee on Cancer Staging Update. Wang, Gang; McKenney, Jesse K. Report May 1, 2019 4919
Molecular Testing Strategies for Pulmonary Adenocarcinoma: An Optimal Approach With Cost Analysis. Layfield, Lester J.; Hammer, Richard D.; White, Sandra K.; Furtado, Larissa V.; Schmidt, Robert L. Report May 1, 2019 5183
Genetic secrets of long-term glioblastoma survivors. Jovcevska, Ivana Report May 1, 2019 6365
Succinate Dehydrogenase-Deficient Renal Cell Carcinoma. Tsai, Tsung-Heng; Lee, Wen-Ying Report May 1, 2019 3064
Genetic metabolic disorder linked with DNA mutation, claims study. Apr 16, 2019 652
High Frequency of MYD88 L265P Mutation in Primary Ocular Adnexal Marginal Zone Lymphoma and Its Clinicopathologic Correlation: A Study From a Single Institution. Behdad, Amir; Zhou, Xiao Yi; Gao, Juehua; Raparia, Kirtee; Dittman, David; Green, Stefan J.; Qi, Cha Report Apr 1, 2019 6707
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Histone Deacetylase Inhibitors: A Prospect in Drug Discovery/Histon Deasetilaz inhibitorleri: ilac Kesfinde Bir Aday. Yadav, Rakesh; Mishra, Pooja; Yadav, Divya Report Mar 1, 2019 6812
Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses. Hoan, Tiffany K.; Albert, Daniel A. Report Mar 1, 2019 4790
Exon 2: Is it the good police in familial mediterranean fever? Bilge, Sule Yasar; Solmaz, Dilek; Senel, Soner; Emmungil, Hakan; Kilic, Levent; Oner, Sibel Yilmaz; Report Mar 1, 2019 3048
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort. Touzon, Maria Sol; Garrido, Natalia Perez; Marino, Roxana; Ramirez, Pablo; Costanzo, Mariana; Guerci Report Mar 1, 2019 5807
Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome. Coles, Nicole; Comeau, Ian; Munoz, Tatiana; Harrington, Jennifer; Mendoza-Londono, Roberto; Schulze, Report Mar 1, 2019 2228
Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families. Report Feb 28, 2019 4120
AN UNUSUAL LOCATION OF COMPLEX ODONTOME--A DIAGNOSTIC DILEMMA. Selvam S., Saravana; Chandana, C.S.; Indumathi, M.; Pavithra; Krishnan, C.S. Case study Jan 14, 2019 1759
Linear epidermal nevi. Kaushik, Anshika; Eichenfield, Lawrence F. Jan 1, 2019 651
Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing. Cao, Yan-Yan; Zhang, Wen-Hui; Qu, Yu-Jin; Bai, Jin-Li; Jin, Yu-Wei; Wang, Hong; Song, Fang Report Dec 20, 2018 4802
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria. Hasani-Ranjbar, Shirin; Ejtahed, Hanieh-Sadat; Amoli, Mahsa M.; Bitarafan, Fatemeh; Qorbani, Mostafa Dec 1, 2018 4330
A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus. Tayfur, Asli Celebi; Karaduman, Tugce; Turkmen, Merve Ozcan; Sahin, Dilara; Yilmaz, Aysun Caltik; Bu Dec 1, 2018 3664
Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia. Cetin, Tugba; Siklar, Zeynep; Kocaay, Pinar; Berberoglu, Merih Dec 1, 2018 2667
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene. Unal, Edip; Yildirim, Ruken; Tas, Funda Feryal; Demir, Vasfiye; Onay, Huseyin; Haspolat, Yusuf Kenan Dec 1, 2018 3193
A Novel Mutation of AMHR2 in Two Siblings with Persistent Mullerian Duct Syndrome. Unal, Edip; Yildirim, Ruken; Tekin, Suat; Demir, Vasfiye; Onay, Huseyin; Haspolat, Yusuf Kenan Dec 1, 2018 2579
Familial Mediterranean fever with recurrent erysipelas-like erythema and myalgia: A case report. Mengi, Alper; Ozdolap, Senay Dec 1, 2018 1500
SCN1A geninde yeni bir mutasyonun tanimlandigi Dravet Sendromu olgusu/A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene. Tuncer, Gokcen Oz; Teber, Serap; Albayrak, Pelin; Kutluk, Muhammet Gultekin; Deda, Gulhis Report Dec 1, 2018 1675
Effect of the Point Mutation in Growth Differentiation Factor 9 Gene in Awassi Sheep Oocytes on Sterility and Fertility. Al-Mutar, H.; Younis, L.; Khawla, H. Report Dec 1, 2018 3958
Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy. Lin, Hui-Ting; Liu, Xiao; Zhang, Wei; Liu, Jing; Zuo, Yue-Huan; Xiao, Jiang-Xi; Zhu, Ying; Yuan, Yun Report Dec 1, 2018 4860
New Mutation of Coenzyme Q[sub]10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient. Song, Cheng-Cheng; Hong, Quan; Geng, Xiao-Dong; Wang, Xu; Wang, Shu-Qiang; Cui, Shao-Yuan; Guo, Man- Report Nov 20, 2018 5356
Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations. Yu, Xiao-Lin; Yan, Chuan-Zhu; Ji, Kun-Qian; Lin, Peng-Fei; Xu, Xue-Bi; Dai, Ting-Jun; Li, Wei; Zhao, Report Nov 20, 2018 4748
Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation. Demirayak, Pinar; Onat, Onur Emre; Gevrekci, Aslihan Ors; Gulsuner, Suleyman; Uysal, Hilmi; Bilgen, Report Nov 1, 2018 4647
Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation. Moufid, Fatima Zahra; Bouguenouch, Laila; Bouchikhi, Ihssane El; Houssaini, Mohamed Iraqui; Ouldim, Case study Nov 1, 2018 1989
Importance of the putative furin recognition site [sub.742][RNRR.sub.745] for antiangiogenic Sema3C activity in vitro. Valiulyte, I.; Preitakaite, V.; Tamasauskas, A.; Kazlauskas, A. Report Nov 1, 2018 3852
Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation. Su, Li-Jun; Wang, Yu-Liang; Han, Tao; Qiao, Shan; Zang, Ke-Jun; Wu, Huai-Kuan; Su, Yong-Xin; Liu, Li Report Oct 20, 2018 3786
A Study on the Association between CCR[DELTA]32 Mutation and HCV Infection in Iranian Patients. Bineshian, Farahnaz; Hosseini, Asieh; Sharifi, Zohre; Aghaie, Afsaneh Report Oct 1, 2018 2643
KIF21A Gene c.2860C>T Mutation in CFEOMlA: The First Report from Iran. Ramahi, Masoomeh; Rad, Abolfazl; Shirzadeh, Ebrahim; Najafi, Maryam Case study Oct 1, 2018 2003
Harlequin ichthyosis - a disturbing disorder. Sep 30, 2018 1284
Liquid biopsy and droplet digital PCR offer improvements for lung cancer testing. Meliert, Hestia; Pestano, Gary Sep 1, 2018 3145
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations. Kardelen, Asli Derya; Toksoy, Guven; Bas, Firdevs; Abali, Zehra Yavas; Gencay, Genco; Poyrazoglu, Su Report Sep 1, 2018 6718
Investigation of MKRN3 Mutation in Patients with Familial Central Precocious Puberty. Aycan, Zehra; Savas-Erdeve, Senay; Cetinkaya, Semra; Kurnaz, Erdal; Keskin, Meliksah; Sahin, Nursel Report Sep 1, 2018 4815
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India. Dayal, Devi; Seetharaman, Keerthivasan; Panigrahi, Inusha; Muthuvel, Balasubramaniyan; Agarwal, Ashi Case study Sep 1, 2018 3043
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia. Haliloglu, Belma; Tuzun, Heybet; Flanagan, Sarah E.; Celik, Muhittin; Kaya, Avni; Ellard, Sian; Ozbe Case study Sep 1, 2018 2967
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib. Galli-Tsinopoulou, Assimina; Kotanidou, Eleni P.; Kleisarchaki, Aggeliki N.; Kauli, Rivka; Laron, Zv Case study Sep 1, 2018 3043
Study of major genetic factors involved in pituitary tumorigenesis and their impact on clinical and biological characteristics of sporadic somatotropinomas and non-functioning pituitary adenomas. Foltran, R.K.; Amorim, P.V.G.H.; Duarte, F.H.; Grande, I.P.P.; Freire, A.C.T.B.; Frassetto, F.P.; De Report Sep 1, 2018 4838
Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis. Lu, Yuting; Zhang, Ruili; Wang, Zhenying; Zhou, Shuhua; Song, Yali; Chen, Lamei; Chen, Nan; Liu, Wen Report Sep 1, 2018 3560
Molecular and cellular oncogenic mechanisms in hepatocellular carcinoma. (RESEARCH). Setshedi, M.; Andersson, M.; Kgatle, M.M.; Roberts, L.R. Report Aug 15, 2018 6909
Biomarkers for ALK and ROS1 in Lung Cancer: Immunohistochemistry and Fluorescent In Situ Hybridization. Luk, Peter P.; Selinger, Christina I.; Mahar, Annabelle; Cooper, Wendy A. Report Aug 1, 2018 4436
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy. Yesil, Gozde; Aralasmak, Ayse; Akyiiz, Enes; Icagasioglu, Dilara; Sahin, Turkan Uygur; Bayram, Yavuz Report Aug 1, 2018 1738
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient. Ban, Rui; Guo, Jun-Hong; Pu, Chuan-Qiang; Shi, Qiang; Liu, Hua-Xu; Zhang, Yu-Tong Report Jul 5, 2018 3586
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. He, Jin; Lin, Han; Li, Jin-Jing; Su, Hui-Zhen; Wang, Dan-Ni; Lin, Yu; Wang, Ning; Chen, Wan-Jin Report Jul 5, 2018 4474
Research Progress in the Pathogenesis of Alzheimer's Disease. Chen, Yi-Gang Report Jul 5, 2018 6762
Molecular Testing for Stage IV Non-Small Cell Lung Cancer Patients With Targetable Mutations Following Disease Progression. Saxena, Ashish Report Jul 1, 2018 1764
Diffuse Gliomas for Nonneuropathologists: The New Integrated Molecular Diagnostics. Lee, Sunhee C. Report Jul 1, 2018 7073
Immunohistochemical Expression of p16 in Melanocytic Lesions: An Updated Review and Meta-analysis. Koh, Stephen S.; Cassarino, David S. Report Jul 1, 2018 8440
Noninvasive Follicular Thyroid Neoplasms With Papillary-like Nuclear Features Are Genetically and Biologically Similar to Adenomatous Nodules and Distinct From Papillary Thyroid Carcinomas With Extensive Follicular Growth. Johnson, Daniel N.; Furtado, Larissa V.; Long, Bradley C.; Zhen, Chao Jie; Wurst, Michelle; Mujacic, Report Jul 1, 2018 9299
Malignant paraganglioma in an African patient associated with a succinate dehydrogenase subunit B (SDHB) mutation. Shone, Dennis; Goedhals, Jacqueline; Pearce, Nicholas E. Jun 1, 2018 1558
Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China. Yu, Hong; Liu, Dan; Yang, Jingqun; Wu, Zhiqiang Brief article Jun 1, 2018 118
Two Families with SOD1 (L144F) and C9orf72 Gene Mutations and an Overview of Amyotrophic Lateral Sclerosis/SOD1 (L144F) ve C9orf72 Gen Mutasyonlari Saptanan Iki Aile ve Amiyotrofik Lateral Skleroza Genel Bakis. Bulbul, Nazli Gamze; Secil, Yaprak; Basak, Nazli; Beckmann, Yesim; Ture, Hatice Sabiha; Tunca, Ceren Report Jun 1, 2018 3457
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation. Evliyaoglu, Olcay; Ercan, Oya; Ataoglu, Emel; Zubarioglu, Umit; Ozcabi, Bahar; Dagdeviren, Aydilek; Report Jun 1, 2018 5005
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes. Gole, Evangelia; Oikonomou, Stavroula; Ellard, Sian; De Franco, Elisa; Karavanaki, Kyriaki Case study Jun 1, 2018 3153
One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome. Chen, Xiang; Wang, Huijun; Wu, Bingbing; Dong, Xinran; Liu, Bo; Chen, Hongbo; Lu, Yulan; Zhou, Wenha Case study Jun 1, 2018 3076
The kids are too clean! Germ-free environment in first year of childhood linked to LEUKAEMIA, claims study; Overly sterile environments for young children can be a major factor behind childhood leukaemia according to doctors. May 21, 2018 900
Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles. Alibakhshi, Reza; Moradi, Keivan; Biglari, Mostafa; Shafieenia, Samaneh Report May 1, 2018 3390
Fanconi anaemia in South Africa: Past, present and future. Feben, C.; Wainstein, T.; Kromberg, J.; Essop, F.; Krause, A. May 1, 2018 6165
Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China. Zhao, Hui-Hui; Sun, Xue-Ping; Shi, Ming-Chao; Yi, Yong-Xiang; Cheng, Hong; Wang, Xing-Xia; Xu, Qing- Report Apr 15, 2018 4188
A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients. Ding, Yan; Dong, Hui-Qing Report Apr 15, 2018 3287
Mystery Diseases: Genes Give Clues. Apr 4, 2018 598
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease. Liu, Hua-Xu; Pu, Chuan-Qiang; Shi, Qiang; Zhang, Yu-Tong; Ban, Rui Report Apr 1, 2018 4396
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis. Xu, Yang-Qi; Liu, Xiao-Li; Huang, Xiao-Jun; Tian, Wo-Tu; Tang, Hui-Dong; Cao, Li Report Apr 1, 2018 1380
Colorectal Carcinomas With Isolated Loss of PMS2 Staining by Immunohistochemistry. Alpert, Lindsay; Pai, Reetesh K.; Srivastava, Amitabh; McKinnon, Wendy; Wilcox, Rebecca; Yantiss, Rh Report Apr 1, 2018 5316
46, XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin. Galli-Tsinopoulou, Assimina; Serbis, Anastasios; Kotanidou, Eleni P.; Litou, Eleni; Dokousli, Vaia; Case study Mar 1, 2018 3173
A New Mutation Causing Severe InfantileOnset Pompe Disease Responsive to Enzyme Replacement Therapy. Moravej, Hossein; Amirhakimi, Anis; Showraki, Alireza; Amoozgar, Hamid; Hadipour, Zahra; Nikfar, Gha Case study Mar 1, 2018 2437
Evaluating the current state of the art of Huntington disease research: a scientometric analysis. Barboza, L.A.; Ghisi, N.C. Report Mar 1, 2018 5354
Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease. Lopes, L.B.; Abreu, C.C.; Souza, C.F.; Guimaraes, L.E.R.; Silva, A.A.; Aguiar-Alves, F.; Kidd, K.O.; Report Mar 1, 2018 3876
A case of severe glutathione synthetase deficiency with novel GSS mutations. Xia, H.; Ye, J.; Wang, L.; Zhu, J.; He, Z. Report Mar 1, 2018 2610
Characterization of the porcine Nanog 5'-flanking region. Memon, Azra; Song, Ki-Duk; Lee, Woon Kyu Report Mar 1, 2018 4672
Meningiomas--insights into genetics and correlations with histological features. Grigoras, Adriana; Riscanu, Laura; Amalinei, Cornelia Report Mar 1, 2018 5523
Effects of VDBP and VDR Mutations and Other Factors to the Development of Stent Thrombosis in Coronary Artery Disease Patients. Kira, Deniz; Erdem, Aysun; Gezmi, Hazal; Yesilcimen, Kemal; Altunok, Elif Cigdem; Isbir, Turgay Mar 1, 2018 6682
Biofilm production by clinical isolates of Pseudomonas aeruginosa and structural changes in LasR protein of isolates non biofilm-producing. da Costa Lima, Jailton Lobo; Alves, Lilian Rodrigues; de Araujo Jacome, Paula Regina Luna; Neto, Joa Report Mar 1, 2018 4551
Researchers discover how gene mutation triggers immune disease. Feb 1, 2018 374
Genetic Mutation for Severe Obesity Risk. Jan 9, 2018 551
The Impact of CRISPR/Cas9 Technology on Cardiac Research: From Disease Modelling to Therapeutic Approaches. Motta, Benedetta M.; Pramstaller, Peter P.; Hicks, Andrew A.; Rossini, Alessandra Jan 1, 2018 11364
Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples. Bugoye, Fidelis Charles; Mulima, Elias; Misinzo, Gerald Report Jan 1, 2018 3306
Pediatric Germ Cell Tumors: A Developmental Perspective. Pierce, Joshua L.; Frazier, A. Lindsay; Amatruda, James F. Report Jan 1, 2018 6864
Quasispecies Changes with Distinctive Point Mutations in the Hepatitis C Virus Internal Ribosome Entry Site (IRES) Derived from PBMCs and Plasma. Mercuri, Luca; Thomson, Emma C.; Hughes, Joseph; Karayiannis, Peter Report Jan 1, 2018 6179
Goldmann-Favre Syndrome: Case Series. Ozates, Serdar; Tekin, Kemal; Teke, Mehmet Yasin Case study Jan 1, 2018 2747
The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and Hemochromatosis Gene Mutations in Iranian Patients with Beta Thalassemia Major. Soltanpour, Mohammad Soleiman; Davari, Kambiz Report Jan 1, 2018 4811
Type and Frequency of mutations in katG and rpoB genes in Multi-Drug Resistant Strains of Mycobacterium Tuberculosis Complex. Report Dec 31, 2017 5106
Differential Expression of the KIT Gene in Liaoning Cashmere Goats with different Coat Colors. Report Dec 31, 2017 3499
Cholesterol: Its low density lipoproteins and natural approaches in lipid lowering therapy. Reilly, Wayne Report Dec 22, 2017 3572
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. Tuhan, Hale; Ceylaner, Serdar; Nalbantoglu, Ozlem; Acar, Sezer; Abaci, Ayhan; Bober, Ece; Demir, Kor Case study Dec 1, 2017 2101
Two patients with Apert syndrome with different mutations: the importance of early diagnosis. Isik, Esra; Atik, Tahir; Onay, Huseyin; Ozkinay, Ferda Report Dec 1, 2017 1661
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome. Gong, Ruo-Lan; Wu, Jing; Chen, Tong-Xin Report Dec 1, 2017 1081
A Novel Mutation of PRKAR1A Caused Carney Complex in a Chinese Patient. Cai, Xiao-Ling; Wu, Jing; Luo, Ying-Ying; Chen, Ling; Han, Xue-Yao; Ji, Li-Nong Case study Dec 1, 2017 1279
Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations. Sun, Jian; Quan, Chao; Luo, Su-Shan; Zhou, Lei; Zhao, Chong-Bo Letter to the editor Dec 1, 2017 1042
Molecular Diagnostics. Nov 1, 2017 303
A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient. Yu, Hao; Chen, Yu-Chao; Liu, Gong-Lu; Wu, Zhi-Ying Report Oct 5, 2017 3108
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle. Zhang, Ying; Dai, Yi; Han, Jing-Na; Chen, Zhao-Hui; Ling, Li; Pu, Chuan-Qiang; Cui, Li-Ying; Huang, Report Oct 5, 2017 2403
The Frequency and Importance of Common [alpha]-globin Gene Deletions Among [beta]-Thalassemia Carriers in an Iranian Population. Moosavi, Azam; Ardekani, Ali M. Report Oct 1, 2017 3290
Fanconi anaemia in South African patients with Afrikaner ancestry. Feben, C.; Haw, T.; Stones, D.; Jacobs, C.; Sutton, C.; Kromberg, J.; Krause, A. Report Oct 1, 2017 4508
Massive genetic study shows how humans are evolving. Sep 18, 2017 793
Brachial artery thrombosis mimicking De Quervain's syndrome: a case report. Agirman, Mehmet; Tolu, Sena; Baskan, Ozdil; Ustun, Isil Case study Sep 1, 2017 1629
MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases. Cheng, Ailan; Han, Lianshu; Feng, Yun; Li, Huimin; Yao, Rong; Wang, Dengbin; Jin, Biao Report Sep 1, 2017 3268
Enhancement of Drought Stress Tolerance in Aceh's Local Rice by Mutation with Gamma Rays Irradiation. Efendi; Bakhtiar; Zaitun; Hakim, Lukman Report Sep 1, 2017 4951
Identification of hepatitis B virus A1762T/G1764A double mutant strain in patients in Southern Brazil. Souza, Adaliany Cecilia da Silva; Marasca, Giorgia de Souza; Kretzmann-Filho, Nelson Alexandre; Dall Report Sep 1, 2017 3916
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. Gabbay, Monica; Ellard, Sian; de Franco, Elisa; Moises, Regina S. Case study Sep 1, 2017 2209
Clinicopathological Characteristics of Papillary Thyroid Cancer in Children with Emphasis on Pubertal Status and Association with [BRAF.sup.V600E] Mutation. Poyrazoglu, Sukran; Bundak, Ruveyde; Bas, Firdevs; Yegen, Gulcin; Sanli, Yasemin; Darendeliler, Feyz Report Sep 1, 2017 6123
Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years. Wang, Wei-Yan; Sun, Yi; Zhao, Wen-Ting; Wu, Tai; Wang, Liang; Yuan, Tian-Ming; Yu, Hui-Min Report Sep 1, 2017 5120
Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents. Tunc, Selma; Demir, Korcan; Tukun, Fatma Ajlan; Topal, Cihan; Hazan, Filiz; Saglam, Burcu; Nalbantog Sep 1, 2017 3919
An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression. Flanagan, Sarah E.; Dung, Vu Chi; Houghton, Jayne A.L.; de Franco, Elisa; Ngoc, Can Thi Bich; Damhui Report Sep 1, 2017 2989
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings. Ozhan, Bayram; Anlas, Ozlem Boz; Sarikepe, Bilge; Albuz, Burcu; Gunduz, Nur Semerci Case study Sep 1, 2017 3239
A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease. Li, Li-Xi; Dong, Hai-Lin; Xiao, Bao-Guo; Wu, Zhi-Ying Report Aug 5, 2017 3601
Fabry Nephropathy. Colpart, Prudence; Felix, Sophie Report Aug 1, 2017 2602
A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract. Mynampati, Bharani K.; Muthukumarappa, Thungapathra; Ghosh, Sujata; Ram, Jagat Report Aug 1, 2017 3902
K-RAS and N-RAS mutations in testicular germ cell tumors. Hacioglu, Bekir Muhammet; Kodaz, Hilmi; Erdogan, Bulent; Cinkaya, Ahmet; Tastekin, Ebru; Hacibekirog Report Aug 1, 2017 3527
Follicular morphological characteristics may be associated with invasion in follicular thyroid neoplasms with papillary-like nuclear features. Can, Nuray; Celik, Mehmet; Sezer, Yavuz Atakan; Ozyilmaz, Filiz; Ayturk, Semra; Tastekin, Ebru; Sut, Report Aug 1, 2017 6346
Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene. Jiang, Jun; Wang, Hua-Gui; Wu, Wei-Li; Peng, Xiang-Xin Case study Jul 27, 2017 1045
Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Fang, Xiao-Jing; Yu, Meng; Wu, Yuan; Zhang, Zi-Hao; Wang, Wei-Wei; Wang, Zhao-Xia; Yuan, Yun Report Jul 27, 2017 4252
Unusual Ovarian Cancer Relapse Managed by Nivolumab in a Long-term Surviving Patient with PD-L1 Mutation. Yang, Jie; Yang, Jun-Jun; Zhao, Jun; Ren, Tong; Feng, Feng-Zhi; Wan, Xi-Run; Xiang, Yang Report Jul 27, 2017 1016
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. Chu, Xue-Ying; Li, Yue-Peng; Nie, Min; Wang, Ou; Jiang, Yan; Li, Mei; Xia, Wei-Bo; Xing, Xiao-Ping Case study Jul 27, 2017 1595
Establishment of a Novel Method for Screening Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor Resistance Mutations in Lung Cancer. Tian, Hong-Xia; Zhang, Xu-Chao; Wang, Zhen; Yang, Jin-Ji; Guo, Wei-Bang; Chen, Zhi-Hong; Wu, Yi-Long Jul 27, 2017 4432
Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis. Sun, Rui-Feng; Chen, Hui; Zhu, Wei; Lian, Shi Report Jul 20, 2017 1262
Indices of drought stress tolerance and sensitivity of [M.sub.3] rice mutant lines (Oryza sativa L.) on organic system. Junita, Dewi; Bakhtiar; Efendi Report Jul 1, 2017 4973
Physicochemical study and organoleptic of Aceh's local rice (Oryza sativa L.) mutant [M.sub.3] as a result of irradiation of gamma ray. Maulina, Dara; Hayati, Rita; Efendi Report Jul 1, 2017 4064
Analytic and Clinical Validation of an Ultrasensitive, Quantitative Polymerase Chain Reaction Assay for EGFR Mutation Analysis With Circulating Tumor DNA. Wang, Xiaowei; Gao, Yunhua; Wang, Bei; Zhang, Zhenrong; Liang, Chaoyang; Feng, Hongxiang; Guo, Yongq Report Jul 1, 2017 5956
Morphological Features and Prognostic Significance of ARIDIA-Deficient Esophageal Adenocarcinomas. Drage, Michael G.; Tippayawong, Mingkhwan; Agoston, Agoston T.; Zheng, Yifan; Bueno, Raphael; Hornic Report Jul 1, 2017 5025
A novel variant in the PAH Gene causing Phenylketonuria in an Iranian pedigree. Alavinejad, Elaheh; Sajedi, Seyede Zahra; Razipour, Masoumeh; Entezam, Mona; Mohajer, Neda; Setoodeh Report Jul 1, 2017 2586
ZELLWEGER SYNDROME: RARE DISEASE RARE MUTATION. Manav, Zehra; Katipoglu, Nagehan; Tosun, Ayse Fahriye; Turkmen, Munevver Kaynak; Bozkurt, Gokay Case study Jun 1, 2017 320
A NOVEL INDEL MUTATION IN THE TCOF1 GENE FOUND IN A NEWBORN WITH TREACHER COLLINS SYNDROME. Kocagil, Sinem; Cilingir, Oguz; Carman, Kursat Bora; Aynaci, Sabri; Aras, Beyhan Durak; Bas, Hasan; Case study Jun 1, 2017 308
A NEW MUTATION ASSOCIATED WITH BANNAYAN RILEY RUVALCABA SYNDROME. Cilingir, Oguz; Ozdemir, Muhsin; Yarar, Coskun; Erzurumluoglu, Ebru; Aras, Beyhan Durak; Kocagil, Si Report Jun 1, 2017 300
CONRADI-HUNERMANN SYNDROME IN A MALE AND FEMALE CASE WITH TWO NOVEL EBP MUTATIONS. Senturk, LeyliZ; Altunoglu, Umut; Avci, Sahin; Uyguner, Zehra Oya; Karaman, Birsen; Basaran, Seher Report Jun 1, 2017 272
TWO NOVEL MUTATIONS IN THE L1CAM GENE RESPONSIBLE FOR L1 SYNDROME. Isik, Esra; Onay, Huseyin; Atik, Tahir; Akgun, Bilcag; Cogulu, Ozgur; Ozkinay, Ferda Brief article Jun 1, 2017 270
IDENTIFICATION OF A NOVEL HOMOZYGOUS DELETION OF THE TYROSINASE GENE IN A TURKISH FAMILY WITH OCULOCUTANEOUS ALBINISM TYPE 1. Geckinli, Bilgen Bilge; Delil, Kenan; Soylemez, Mehmet Ali; Ates, Esra Arslan; Turkyilmaz, Ayberk; A Brief article Jun 1, 2017 210
A NEW MUTATION IN THE WISP3 GENE (c.935_936insT;p. C314Lfs*7) IN A PATIENT WITH PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA. Abur, Ummet; Ogur, Gonul; Aykut, Ayca; Alanay, Yasemin Case study Jun 1, 2017 290
The Next Generation of Molecular Pathology is Here: Validation of Next- Generation Sequencing Technology for Clinical Molecular Testing Across Multiple Different Disciplines. Week, Karen E. Jun 1, 2017 1365
A Case of 46,XX DSD Due to a Novel Mutation in P450 Oxidoreductase Gene. Yildiz, Melek; Gezdirici, Alper; Aydin, Banu; Onal, Hasan; Akgun, Abdurrahman; Dogan, Beyza Belde; A Case study Jun 1, 2017 300
Monogenic Diabetes Case Presented with Symptomatic Hyperglycemia and Atypical Mutation. Topaloglu, Omercan; Evren, Bahri; Sahin, Ibrahim Brief article Jun 1, 2017 290
A Novel Mutation in INSR Gene in a Child Presenting with Acanthosis Nigricans. Tuhan, Hale; Ceylaner, Serdar; Nalbantoglu, Ozlem; Acar, Sezer; Abaci, Ayhan; Bober, Ece; Demir, Kor Case study Jun 1, 2017 312
Thyroid Hormone Resistance P453A Mutation. Ugurlu, Aylin Kilinc; Doger, Esra; Akbas, Emine Demet; Bideci, Aysun; Camurdan, Orhun; Cinaz, Peyami Case study Jun 1, 2017 313
Atypical LMNA Mutation in EXON 11 Associated with a Milder Clinical Outcome in Dunnigan-Type Familial Partial Lipodystrophy. Saydam, Basak Ozgen; Cavdar, Umit; Altay, Canan; Onay, Huseyin; Simsir, Ilgin Yildirim; Demir, Tevfi Case study Jun 1, 2017 312
A Novel Mutation in AMHR2 Gene in Two Siblings with Persistent Mullerian Duct Syndrome. Cakir, Aydilek Dagdeviren; Turan, Hande; Tuysuz, Beyhan; Onay, Huseyin; Ercan, Oya; Evliyaoglu, Saad Report Jun 1, 2017 321
HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome. Atik, Tahir; Isik, Esra; Ozen, Samim; Akgun, Bilcag; Onay, Huseyin; Cogulu, Ozgur; Erguner, Bekir; S Case study Jun 1, 2017 319
POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency. Akgun, Bilcag; Karademir, Zehra; Isik, Esra; Darcan, Sukran; Aykut, Ayca; Durmaz, Asude; Ozen, Samim Report Jun 1, 2017 344
FGFR2 Gene Mutations in Patients with Syndromic or Isolated Craniosynostosis. Ceylan, Emine Ipek; Solmaz, Asli Ece; Onay, Huseyin; Aykut, Ayca; Durmaz, Asude; Yesil, Gozde; Hazan Report Jun 1, 2017 360
The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations. Isik, Esra; Onay, Huseyin; Akgun, Bilcag; Atik, Tahir; Aykut, Ayca; Durmaz, Asude; Dundar, Munis; Ku Brief article Jun 1, 2017 247
Mutation Spectrum of GCK, HNF1A, and HNF1B in MODY Patients and 40 Novel Mutations. Ozkinay, Ferda; Isik, Esra; Simsek, Damla Goksen; Aykut, Ayca; Karaca, Emin; Ozen, Samim; Bolat, Hil Brief article Jun 1, 2017 264
Investigation of Androgen Receptor Gen Mutation Spectrum in the Turkish Patients with Disorder of Sex Development. Onay, Huseyin; Ozen, Samim; Turk, Tuba Sozen; Darcan, Sukran; Atik, Tahir; Anik, Ahmet; Ercan, Oya; Report Jun 1, 2017 355
A Novel HESX1 Mutation in a Case with Panhypopituitarism. Solmaz, Asli Ece; Aykut, Ayca; Durmaz, Asude Brief article Jun 1, 2017 225
Four 46,XY DSD Cases with Novel Mutations in AR and SRD5A2 Genes. Aghayev, Agharza; Toksoy, Guven; Bas, Firdevs; Altunoglu, Umut; Karaman, Birsen; Poyrazoglu, Sukran; Report Jun 1, 2017 355
Hyperinsulinemic Hypoglycemia Due to Homozygous C.706 C>T ( P. R236X) Mutation in 3 Siblings: Presentation with Resistant Epilepsy. Cayir, Atilla; Franco, Elisa De; Gullu, Ufuk Utku; Flanagan, Sarah E.; Ellard, Sian; Demirbilek, Hus Report Jun 1, 2017 350
Investigation of LDLR Gene Mutations in Turkish Patients with Familial Hypercholesterolemia. Okur, Ilyas; Ezgu, Fatih Suheyl; Inci, Asli; Olgac, Asburce Bike; Tumer, Leyla Brief article Jun 1, 2017 191
A Novel THRA Gene Mutation in Patient with Thyroid Hormone Resistance. Korkmaz, Ozlem; Ozen, Samim; Ozdemir, Taha Resid; Goksen, Damla; Darcan, Sukran Case study Jun 1, 2017 353
Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types. Gunes, Nilay; Erkan, Tulay; Kutlu, Tufan; Onay, Huseyin; Ozkinay, Ferda; Tuysuz, Beyhan Case study Jun 1, 2017 315
Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Mullerian Hormone Receptor Mutation. Korkmaz, Ozlem; Ozen, Samim; Ozcan, Nurhan; Bayindir, Petek; Sen, Sait; Onay, Huseyin; Goksen, Damla Case study Jun 1, 2017 1999
Triazole Resistance in Aspergillus fumigatus Clinical Isolates Obtained in Nanjing, China. Zhang, Ming; Feng, Chun-Lai; Chen, Fei; He, Qian; Su, Xin; Shi, Yi Report Jun 1, 2017 2654
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome. Wang, Li; Lin, Qiong-Fen; Wang, Hong-Yang; Guan, Jing; Lan, Lan; Xie, Lin-Yi; Yu, Lan; Yang, Ju; Zha Report Jun 1, 2017 3307
Braf mutation analysis in thyroid diseases--a study from a tertiary care hospital/centre in kerala. Kartha, Priya P.; Sadasivan, Santha Report May 29, 2017 1765
Circulating-free DNA Mutation Associated with Response of Targeted Therapy in Human Epidermal Growth Factor Receptor 2-positive Metastatic Breast Cancer. Ye, Qing; Qi, Fan; Bian, Li; Zhang, Shao-Hua; Wang, Tao; Jiang, Ze-Fei Report May 1, 2017 4675
A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome. Hu, Jian; Zhu, Yun; Zhang, Jian-Zhong; Zhang, Rong-Guang; Li, Hou-Min Report May 1, 2017 3908
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase. Wu, X.L.; Zhao, X.Q.; Zhang, B.X.; Xuan, F.; Guo, H.M.; Ma, F.T. Case study Apr 1, 2017 2924
Today's stem cell modeling techniques can't probe genetic variations. Mar 27, 2017 556
It may be time to redefine dysplastic nevi to stratify cancer risk. Report Mar 15, 2017 144
Black colored intervertebral disc; ochronosis: A case report. Osun, Arif; Korkmaz, Murat; Temiz, Peyker; Samancioglu, Ali; Atay, Berkant Case study Mar 1, 2017 1585
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy. Su, Xueying; Lin, Ruizhu; Huang, Yonglan; Sheng, Huiying; Li, Xiaofei; Ting, Tzer Hwu; Liu, Li; Li, Report Mar 1, 2017 3918
Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene. Sahin, Sezgin; Hiort, Olaf; Thiele, Susanne; Evliyaoglu, Olcay; Tuysuz, Beyhan Case study Mar 1, 2017 3396
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A). Celmeli, Gamze; Turkkahraman, Doga; Curek, Yusuf; Houghton, Jayne; Akcurin, Sema; Bircan, Iffet Report Mar 1, 2017 3134
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. Guven, Ayla; Polat, Seher Report Mar 1, 2017 3510
WISCOTT ALDRICH SYNDROME: NEW MUTATION IN TWO CASES. Karaman, Kamuran; Yurekturk, Eyup; Geylan, Hadi; Cetin, Mecnun; Yavuz, Halil Report Mar 1, 2017 251
COMBINATION OF WERDNIG HOFFMANN DISEASE AND CHRONIC RENAL FAILURE. Gunes, Tamer; Ozdemir, Ahmet; Kocaer, Elif Suheda; Pinarbasi, Ayse Seda; Poyrazoglu, Muammer Hakan; Case study Mar 1, 2017 445
Genomic Profiling of Thyroid Nodules: Current Role for ThyroSeq Next-Generation Sequencing on Clinical Decision-Making/Tiroid Nodulu Genomik Profillemesi: ThyroSeq Yeni-Nesil Dizinlemenin Klinik Karar Verme Uzerinde Guncel Rolu. Kargi, Atil Y.; Bustamante, Marcela Perez; Gulec, Seza Report Feb 1, 2017 8318
Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East. Liu, Muyun; Xia, Tian; Zhang, Di; Hu, Lianghao; Liao, Zhuan; Sun, Chang; Li, Zhaoshen Report Jan 1, 2017 5125
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism. Luhrs, Kyleen; Ward, Tracey; Hudac, Caitlin M.; Gerdts, Jennifer; Stessman, Holly A. F.; Eichler, Ev Report Jan 1, 2017 6093
Cholesterol Levels in Genetically Determined Familial Hypercholesterolemia in Russian Karelia. Korneva, V.A.; Kuznetsova, T.Yu.; Bogoslovskaya, T.Yu.; Polyakov, D.S.; Vasilyev, V.B.; Orlov, A.V.; Report Jan 1, 2017 3879
Efficacy of Second-Line Pemetrexed-Carboplatin in EGFR-Activating Mutation-Positive NSCLC: Does Exon 19 Deletion Differ from Exon 21 Mutation? Joshi, Amit; Noronha, Vanita; Patil, Vijay M.; Chougule, Anuradha; Bhattacharjee, Atanu; Kumar, Raji Jan 1, 2017 2478
Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment. Kaheel, Hazem; Bress, Andreas; Hassan, Mohamed A.; Shah, Aftab Ali; Amin, Mutaz; Bakhit, Yousuf H.Y. Report Jan 1, 2017 1884
Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma. Cavedon, Elisabetta; Barollo, Susi; Bertazza, Loris; Pennelli, Gianmaria; Galuppini, Francesca; Watu Report Jan 1, 2017 5698
Prevalence of EGFR Mutations in Lung Cancer in Uruguayan Population. Berois, Nora; Touya, Diego; Ubillos, Luis; Bertoni, Bernardo; Osinaga, Eduardo; Varangot, Mario Report Jan 1, 2017 6219
Molecular Age-Related Changes in the Anterior Segment of the Eye. Hernandez-Zimbron, Luis Fernando; Gulias-Canizo, Rosario; Golzarri, Maria F.; Martinez-Baez, Blanca Report Jan 1, 2017 5891
Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome. Li, Kuanshu; Yang, Liu; Liu, Ying; Lin, Ding Report Jan 1, 2017 2631
Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China. Gan, Dekang; Li, Mengwei; Wu, Jihong; Sun, Xinghuai; Tian, Guohong Report Jan 1, 2017 2147
Impact of Cytological Sampling on EGFR Mutation Testing in Stage III-IV Lung Adenocarcinoma. Davies, Rhian Sian; Smith, Christian; Edwards, Gwenllian; Butler, Rachel; Parry, Diane; Lester, Jaso Report Jan 1, 2017 3297
On Characterizing the Interactions between Proteins and Guanine Quadruplex Structures of Nucleic Acids. McRae, Ewan K.S.; Booy, Evan P.; Padilla-Meier, Gay Pauline; McKenna, Sean A. Report Jan 1, 2017 8063
Dual-Task Performance in GBA Parkinson's Disease. Srulijes, Karin; Brockmann, Kathrin; Ogbamicael, Senait; Hobert, Markus A.; Hauser, Ann-Kathrin; Sch Report Jan 1, 2017 4220
Transcriptional and Genomic Control of Stem Cells in Development and Cancer. Zhang, Jinsong; Gow, Chien-Hung; Khan, Sohaib; Liu, Ying; Yang, Chuanwei Report Jan 1, 2017 1197
Simple Meets Single: The Application of CRISPR/Cas9 in Haploid Embryonic Stem Cells. Yin, Zixi; Chen, Lingyi Report Jan 1, 2017 4449
Molecular Mutations and Their Cooccurrences in Cytogenetically Normal Acute Myeloid Leukemia. Wang, Mengning; Yang, Chuanwei; Zhang, Le; Schaar, Dale G. Report Jan 1, 2017 8367
WDR62 Regulates Early Neural and Glial Progenitor Specification of Human Pluripotent Stem Cells. Alshawaf, Abdullah J.; Antonic, Ana; Skafidas, Efstratios; Ng, Dominic Chi- Hung; Dottori, Mirella Report Jan 1, 2017 5304
Increased Mitochondrial Mass and Cytosolic Redox Imbalance in Hippocampal Astrocytes of a Mouse Model of Rett Syndrome: Subcellular Changes Revealed by Ratiometric Imaging of JC-1 and roGFP1 Fluorescence. Bebensee, Dorthe F.; Can, Karolina; Muller, Michael Report Jan 1, 2017 8942
BAG5 Interacts with DJ-1 and Inhibits the Neuroprotective Effects of DJ-1 to Combat Mitochondrial Oxidative Damage. Qin, Li-xia; Tan, Jie-qiong; Zhang, Hai-nan; Rizwana, Kousar; Lu, Jia-hong; Tang, Jian-guang; Jiang, Report Jan 1, 2017 5251
Role of Mitochondrial Genome Mutations in Pathogenesis of Carotid Atherosclerosis. Sazonova, Margarita A.; Sinyov, Vasily V.; Ryzhkova, Anastasia I.; Galitsyna, Elena V.; Khasanova, Z Report Jan 1, 2017 4328
Caveolin-1: An Oxidative Stress-Related Target for Cancer Prevention. Wang, Shengqi; Wang, Neng; Zheng, Yifeng; Zhang, Jin; Zhang, Fengxue; Wang, Zhiyu Report Jan 1, 2017 14304
Fraxinus: A Plant with Versatile Pharmacological and Biological Activities. Sarfraz, Iqra; Rasul, Azhar; Jabeen, Farhat; Younis, Tahira; Zahoor, Muhammad Kashif; Arshad, Muhamm Report Jan 1, 2017 8457
A Novel -72 (T [right arrow] A)[beta]-Promoter Mutation Causing Slightly Elevated Hb[A.sub.2] in a Vietnamese Heterozygote. Pirastru, Monica; Mereu, Paolo; Nguyen, Chau Quynh; Nguyen, Nhan Viet; Nguyen, Thang Duy; Manca, Lau Report Jan 1, 2017 4082
Prevalence and Molecular Characterization of Second-Line Drugs Resistance among Multidrug-Resistant Mycobacterium tuberculosis Isolates in Southwest of China. Hu, Y.; Xu, L.; He, Y.L.; Pang, Y.; Lu, N.; Liu, J.; Shen, J.; Zhu, D.M.; Feng, X.; Wang, Y.W.; Yang Report Jan 1, 2017 6439
Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals. Zhang, Tongda; Wu, Yiran; Lan, Zhangzhang; Shi, Quan; Yang, Ying; Guo, Jian Report Jan 1, 2017 2692
NPHS2 Mutations: A Closer Look to Latin American Countries. Guaragna, Mara Sanches; Lutaif, Anna Cristina G.B.; Maciel-Guerra, Andrea T.; Belangero, Vera M.S.; Report Jan 1, 2017 4422
Increased EGFR Phosphorylation Correlates with Higher Programmed Death Ligand-1 Expression: Analysis of TKI-Resistant Lung Cancer Cell Lines. Suda, Kenichi; Rozeboom, Leslie; Furugaki, Koh; Yu, Hui; Melnick, Mary Ann C.; Ellison, Kim; Rivard, Report Jan 1, 2017 2934
Effect of Gamma Rays on Sophora davidii and Detection of DNA Polymorphism through ISSR Marker. Wang, Puchang; Zhang, Yu; Zhao, Lili; Mo, Bentian; Luo, Tianqiong Report Jan 1, 2017 4653
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. Liu, Lv; Yang, Kai; Wang, Xiang; Shi, Zhihui; Yang, Yifeng; Yuan, Yu; Guo, Ting; Xiao, Xiaocui; Luo, Report Jan 1, 2017 2903
Genetic Mutations and Epigenetic Modifications: Driving Cancer and Informing Precision Medicine. Coyle, Krysta Mila; Boudreau, Jeanette E.; Marcato, Paola Report Jan 1, 2017 14511
RNA-seq Based Transcription Characterization of Fusion Breakpoints as a Potential Estimator for Its Oncogenic Potential. Gu, Jian-Lei; Chukhman, Morris; Lu, Yao; Liu, Cong; Liu, Shi-Yi; Lu, Hui Report Jan 1, 2017 5737
Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans. Harbi, Mariam S. Al; Hattab, Ayman W. El- Case study Jan 1, 2017 1743
Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene--Expanding the Clinical Phenotype. Sanchez, Ana Isabel; Rincon, Alejandra; Garcia, Mary; Suarez-Obando, Fernando Report Jan 1, 2017 2105
Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus. Salari, Mehri; Lehn, Alexander C.; Etemadifar, Masoud; Hejazi, Seyed Amir Report Jan 1, 2017 1148
Gastric Medullary Carcinoma with Sporadic Mismatch Repair Deficiency and a TP53 R273C Mutation: An Unusual Case with Wild-Type BRAF. Lowenthal, Brett M.; Chan, Theresa W.; Thorson, John A.; Kelly, Kaitlyn J.; Savides, Thomas J.; Vala Case study Jan 1, 2017 1786
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. Brennan, Alisa; Kesavan, Anil Case study Jan 1, 2017 2202
De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis. Mauro, Angela; Omoyinmi, Ebun; Sebire, Neil James; Brogan, Angela Barnicoaand Paul Case study Jan 1, 2017 2958
Effects of a Novel Glucokinase Activator, HMS5552, on Glucose Metabolism in a Rat Model of Type 2 Diabetes Mellitus. Wang, Ping; Liu, Huili; Chen, Li; Duan, Yingli; Chen, Qunli; Xi, Shoumin Report Jan 1, 2017 5561
HE4 Serum Levels in Patients with BRCA1 Gene Mutation Undergoing Prophylactic Surgery as well as in Other Benign and Malignant Gynecological Diseases. Chudecka-Glaz, Anita; Cymbaluk-Ploska, Aneta; Strojna, Aleksandra; Menkiszak, Janusz Report Jan 1, 2017 8390
Computing Individual Risks Based on Family History in Genetic Disease in the Presence of Competing Risks. Nuel, Gregory; Lefebvre, Alexandra; Bouaziz, Olivier Report Jan 1, 2017 9288
Aging increases DNA mutations in important type of stem cell. Dec 19, 2016 467
Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma. Liao, Rong-Feng; Zhong, Zi-Lin; Ye, Min-Jie; Han, Li-Yun; Ye, Dong-Qing; Chen, Jian-Jun Report Dec 5, 2016 4275
Should we routinely screen for warfarin gene polymorphism in patients with coumadin overdose? Gul, Enes Elvin; Erdogan, Halil Ibrahim; Yazici, Mehmet Case study Dec 1, 2016 1143
Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroid-resistant nephrotic syndrome. Renda, R.; Aydog, O.; Bulbul, M.; Cakici, E.K. Case study Dec 1, 2016 2005
Filaggrin Gene Mutation c.3321delA is Associated with Dry Phenotypes of Atopic Dermatitis in the Chinese Han Population. Zhong, Wei-Long; Wu, Xia; Yu, Bo; Zhang, Jie; Zhang, Wei; Xu, Ning; Zhou, Jing; Zheng, Jie-Cheng; Ch Report Dec 1, 2016 1453
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. Atik, Sezen Ugan; Gursoy, Semra; Kockar, Tuba; Onal, Hasan; Adal, Servet Erdal Report Dec 1, 2016 4716
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. Dursun, Fatma; Mohamoud, Hussein Sheikh Ali; Karim, Noreen; Naeem, Muhammad; Jelani, Musharraf; Kirm Report Dec 1, 2016 3593
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. Prochazkova, Dagmar; Hruba, Zuzana; Konecna, Petra; Skotakova, Jarmila; Fajkusova, Lenka Case study Dec 1, 2016 1076
Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18. Tian, Wo-Tu; Shen, Jun-Yi; Liu, Xiao-Li; Wang, Tian; Luan, Xing-Hua; Zhou, Hai-Yan; Chen, Sheng-Di; Report Nov 20, 2016 1291
Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis. Bai, Xiao; Liu, Jia-Wei; Ma, Dong-Lai Report Nov 20, 2016 831
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family. Tan, Jia-Ze; Man, Yuan; Xiao, Fei Case study Nov 5, 2016 4135
A novel missense mutation in CLCN1 gene in a family with autosomal recessive congenital myotonia. Miryounesi, Mohammad; Ghafouri-Fard, Soudeh; Fardaei, Majid Sep 1, 2016 1411
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients. Wang, Hong-Xia; Li, Hong-Fu; Liu, Gong-Lu; Wen, Xiao-Dan; Wu, Zhi-Ying Report Sep 1, 2016 3215
Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia. Papadopoulou, Anna; Gole, Evangelia; Melachroinou, Katerina; Meristoudis, Christos; Siahanidou, Tani Case study Sep 1, 2016 4020
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. Nur, Banu Guzel; Celmeli, Gamze; Manguoglu, Esra; Soyucen, Erdogan; Bircan, Iffet; Mihci, Ercan Case study Sep 1, 2016 2509
Gene drives' fatal flaw has an upside: inevitable mutations could prevent tool from running amok. Saey, Tina Hesman Aug 20, 2016 447
Clinical Manifestation of Calreticulin Gene Mutations in Essential Thrombocythemia without Janus Kinase 2 and MPL Mutations: A Chinese Cohort Clinical Study. Sun, Chao; Zhou, Xin; Zou, Zhi-Jian; Guo, Hong-Feng; Li, Jian-Yong; Qiao, Chun Clinical report Aug 5, 2016 4171
A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes. Guo, Bi-Rong; Li, Cong-Sheng; Zhu, Qi-Ming; Xu, Kang; Pan, Wei; Jiang, Peng Case study Jul 20, 2016 770
Bilateral papillophlebitis in a patient with mutation of metilenetetrahydrofolate reductase enzyme. Guzel, Huseyin; Ozturk, Banu Turgut; Gedik, Sansal; Bakbak, Berker; Beyoglu, Abdullah; Kocak, Nadir Case study Jul 1, 2016 1873
K-RAS mutations in colorectal cancer in patients from Podlaskie region. Chomczyk, M.; Czajka, P. Report Jun 1, 2016 5428
Current Perspectives on Pseudohypoparathyroidism-New Classification. Turan, Serap Report Jun 1, 2016 1155
The Genetics of Growth and Growth Disorders: From the Hypothalamus to the Epiphysis. Geffner, Mitchell E. Report Jun 1, 2016 1262
Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1. Ulubay, Ayca; Kotan, L. Damla; Cooper, Charlton; Darcan, Sukran; Carr, Ian M.; Ozen, Samim; Yan, Yi; Author abstract Jun 1, 2016 132
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. Kotan, Leman Damla; Cooper, Charlton; Darcan, Sukran; Carr, Ian M.; Ozen, Samim; Yan, Yi; Hamedani, Report Jun 1, 2016 6991
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature. Delil, Kenan; Karabulut, Halil Gurhan; Hacihamdioglu, Bulent; Siklar, Zeynep; Berberoglu, Merih; Oca Report Jun 1, 2016 4337
A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans. Akgurin, Sema; Turkkahraman, Doga; Kim, Woo-Young; Durmaz, Erdem; Shin, Jae-Gook; Lee, Su-Jun Report Jun 1, 2016 3129
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency. Eren, Erdal; Edgunlu, Tuba; Asut, Emre; Celik, Sevim Karakas Report Jun 1, 2016 3475
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism. Zheng, Xiao; Ma, Shao-Gang; Qiu, Ya-Li; Guo, Man-Li; Shao, Xiao-Juan Case study Jun 1, 2016 2339
Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients. Sarajlija, Adrijan; Milenkovic, Tatjana; Djordjevic, Maja; Mitrovic, Katarina; Todorovic, Sladjana; Report Jun 1, 2016 3125
A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty. Kocyigit, Cemil; Saritas, Serdar; Qatli, Gonul; Onay, Huseyin; Dundar, Bumin Nuri Case study Jun 1, 2016 2898
A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient. Sriphrapradang, Chutintorn; Thewjitcharoen, Yotsapon; Chanprasertyothin, Suwannee; Nakasatien, Soont Case study Jun 1, 2016 2938
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. Khan, Nusrat; Dandan, Waleed; Al Hassani, Noura; Hadi, Suha Case study Jun 1, 2016 2672
Genetic escape artists resist disease: 13 people found with harmful mutations but no symptoms. Saey, Tina Hesman May 14, 2016 829
Humans compensate for missing genes. Saey, Tina Hesman Brief article Apr 2, 2016 277
Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey. Aydogan, Berna Imge; Yuksel, Bagdagul; Tuna, Mazhar Muslum; Basaran, Mehtap Navdar; Kocaeli, Aysen A Report Mar 1, 2016 6180
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis. Liu, Shiguo; Chai, Jian; Zheng, Guohua; Li, Huichao; Lu, Deguo; Ge, Yinlin Report Mar 1, 2016 3054
A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report. Altincik, Ayca; Schlingmann, Karl Peter; Tosun, Mahya Sultan Case study Mar 1, 2016 2503
Functional and structural consequences of nine CYP21A2 mutations ranging from very mild to severe effects. Michelatto, Debora de Paula; Karlsson, Leif; Lusa, Ana Leticia Gori; Silva, Camila D'Almeida Mgnani; Report Jan 1, 2016 5970
X-linked Adrenal Hypoplasia Congenita in a boy due to a novel deletion of the entire NR0B1 (DAX1) and MAGEB1-4 genes. Rojek, Aleksandra; Krawczynski, Maciej R.; Jamsheer, Aleksander; Sowinska-Seidler, Anna; Iwaniszewsk Case study Jan 1, 2016 4799
Genetic profile, environmental exposure, and their interaction in Parkinson's disease. Polito, Letizia; Greco, Antonio; Seripa, Davide Jan 1, 2016 8018
Fluoroquinolone resistance among clonal complex 1 group B Streptococcus strains. Neemuchwala, Alefiya; Teatero, Sarah; Patel, Samir N.; Fittipaldi, Nahuel Report Jan 1, 2016 3418
Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family. Liu, Hong-Yan; Huang, Jia; Wu, Dong; Li, Tao; Guo, Liang-Jie; Guo, Qian-Nan; Wang, Hong-Dan; Wang, R Report Jan 1, 2016 1568
Bacterial load in daily urine samples of patients infected with mycoplasma genitalium, mutation analysis, and response to treatment. Gosse, M.; Nordbo, S.A.; Pukstad, B. Report Jan 1, 2016 5152
Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment. Wang, Hong-Yang; Zhao, Ya-Li; Liu, Qiong; Yuan, Hu; Gao, Yun; Lan, Lan; Yu, Lan; Wang, Da-Yong; Guan Report Dec 20, 2015 4012
Hereditary Transthyretin Amyloidosis in Eight Chinese Families. Meng, Ling-Chao; Lyu, He; Zhang, Wei; Liu, Jing; Wang, Zhao-Xia; Yuan, Yun Report Nov 1, 2015 2562
Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome. Liu, Jia-Wei; Si, Nuo; Wang, Lian-Qing; Shen, Ti; Zeng, Xue-Jun; Zhang, Xue; Ma, Dong-Lai Report Oct 1, 2015 2344
K-ras mutation in colorectal cancer, a report from southern Iran. Omidifar, Navid; Geramizadeh, Bita; Mirzai, Mitra Report Sep 1, 2015 3583
Trends in lung cancer molecular testing. Smolkin, Matthew B.; Almubarak, Mohammed; Perrotta, Peter L. Report Sep 1, 2015 3463
Late emergence of A594V and L595W mutations related to ganciclovir resistance in a patient with HCMV retinitis and long-term HIV progression. Slavov, S.N.; Vilar, F.C.; Wagatsuma, V.M.D.; Santana, R.C.; Machado, A.A.; Fonseca, B.A.L. da; Kash Sep 1, 2015 3286
Zebrafish spark mutation debate: disparity in methods muddles quest to determine gene's job. Saey, Tina Hesman Aug 22, 2015 521
Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy. Zhang, Bing-Qing; Si, Nuo; Liu, Dong-Fang Report Aug 20, 2015 1232
K-ras codon 12 and not TP53 mutations are predominant in advanced colorectal cancers. Zhunussova, G.; Djansugurova, L.; Khussainova, E.; Zhunusbekova, B.; Afonin, G.; Khaidarova, D.; Mat Report Aug 1, 2015 4228
Effect of point mutations on Herbaspirillum seropedicae NifA activity. Aquino, B.; Stefanello, A.A.; Oliveira, M.A.S.; Pedrosa, F.O.; Souza, E.M.; Monteiro, R.A.; Chubatsu Report Aug 1, 2015 5541
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations. Fortes, F.P.; Kuasne, H.; Marchi, F.A.; Miranda, P.M.; Rogatto, S.R.; Achatz, M.I. Jul 1, 2015 4068
Hemolytic uremic syndrome. Canpolat, Nur Report Jun 1, 2015 6464
A familial case of pachyonychia congenita. Report Mar 31, 2015 1186

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