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Psychiatric drug could help beat bowel cancer. ARMSTRONG Jun 3, 2021 471
Psychiatric drug could help beat bowel cancer. ARMSTRONG Jun 3, 2021 471
Oncological Follow-up with 2-[[.sup.18]F]-FDG PET/CT in Li-Fraumeni Syndrome/Li-Fraumeni Sendromunda 2-[[.sup.18]F]-FDG PET/BT ile Onkolojik Takip. Hernandez, Marylin Acuna; Gonzalez, Ivan Fabricio Vega; Velez, Lina Lopez; Arango, Catalina Melo Jun 1, 2021 458
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
Molecular characterization of hepatitis B virus basal core promoter and precore region of isolates from chronic hepatitis B patients. Ahmad, Israr; Ahmad, Kafeel Report May 30, 2021 3675
Sister who lost 'kindest' brother, 10, to rare condition fights to save others same pain; EXCLUSIVE: Molly Schiller was 15 when her brother Max died from hypertrophic cardiomyopathy, a rare condition affecting one in 500 people in the UK. Her research is helping to identify HCM's genetic causes. By, Amanda Stocks May 29, 2021 1085
Bluebird bio Receives Positive CHMP Opinion for Skysona Gene Therapy for Patients Less Than 18 Years of Age with Early Cerebral Adrenoleukodystrophy. May 21, 2021 921
Tenaya Therapeutics Receives Orphan Drug Designation and Presents Pre-Clinical Data for its Most Advanced Gene Therapy Product Candidate for Genetic Hypertrophic Cardiomyopathy. May 20, 2021 404
Translate Bio presents preclinical results in PCD at ATS 2021. May 18, 2021 383
'New hope' for some bowel cancer patients as treatment approved in Scotland; An "important milestone" has been hailed in cancer care as the first targeted treatment for bowel cancer with BRAF mutations has been approved by the Scottish Medicines Consortium. Elsa Maishman May 10, 2021 338
Passage Bio partners with InformedDNA to offer genetic counseling, testing. May 3, 2021 219
Modulatory effect of single nucleotide polymorphism in Xmn1, BCL11A and HBS1L-MYB loci on foetal haemoglobin levels in [beta]-thalassemia major and Intermedia patients. Bashir, Shabnam; Mahmood, Saqib; Mohsin, Shahida; Tabassum, Iqra; Ghafoor, Mahmood; Sajjad, Osheen Report May 2, 2021 2183
Pitfalls in the diagnosis of Gaucher disease in Iraq: A diagnostic experience from a developing country. Rabab Farhan Thejeal, Saja Baheer Abdul wahhab and Nebal Waill Saadi May 1, 2021 2989
Kezar Life Sciences presents preclinical data with IND candidate KZR-261. Apr 11, 2021 260
Lucira Says COVID-19 Test Kit Identifies Viral Variants. Apr 9, 2021 469
SARS-CoV-2 Spike Protein More Infectious. Apr 1, 2021 503
Clinical and Pathological Characteristics of Patients with High-Risk Breast Cancer Based on BRCA Mutation Profiles: A Retrospective Study. Atci, Muhammed Mustafa; Geredeli, Caglayan; Ay, Seval; Sakin, Abdullah; Erturk, Biray; Secmeler, Sab Report Apr 1, 2021 3741
The Relationship of Mutation Carriage of BRCA1/2 and Family History in Triple-Negative Breast Cancer: Experience from a Diagnostic Center in Turkey. Duzkale, Neslihan; Kandemir, Olcay Report Apr 1, 2021 4497
FAMILY HEART DISEASE HISTORY...SWOLLEN FEET. Wanagat, Jonathan Apr 1, 2021 737
P.arg102ser is a common Pde6[alpha] mutation causing autosomal recessive retinitis pigmentosa in Pakistani families. Khan, Anoshiya Ali; Waryah, Yar Muhammad; Iqbal, Muhammad; Baig, Hafiz Muhammad Azhar; Rafique, Muha Report Mar 31, 2021 2819
Sidra Medicine Pathology identifies new mutation likely to affect COVID-19 testing. Mar 25, 2021 522
Sidra Medicine identifies new mutation that may affect Covid-19 testing. Mar 24, 2021 503
Mum quits job to study her girl's rare condition; Mia-Rose, 6, is the only person with mutation. ELLIE FORBES Mar 5, 2021 297
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis. Sherif, Maha; Demirbilek, Huseyin; Cayir, Atilla; Tahir, Sophia; Cavdarli, Busra; Demiral, Meliha; C Report Mar 1, 2021 6522
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism. Durmaz, Asude; Aykut, Ayca; Atik, Tahir; Ozen, Samim; Emecen, Durdugul Ayyildiz; Ata, Aysun; Isik, E Clinical report Mar 1, 2021 4476
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey. Ongen, Yasemin Denkboy; Eren, Erdal; Demirbas, Ozgecan; Sobu, Elif; Ellard, Sian; Franco, Elisa De; Report Mar 1, 2021 4776
Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. Hacihamdioglu, Bulent; Bas, Elif Gulsah; Delil, Kenan Clinical report Mar 1, 2021 2280
Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation. Yucel, Husniye; Sel, Cigdem Genc; Kasapkara, Cigdem Seher; Kucukali, Gulin Karacan; Savas-Erdeve, Se Clinical report Mar 1, 2021 2829
Gynecologic manifestations in Emberger syndrome /Emberger sendromunda jinekolojik belirtiler. Yuksel, Hasan; Zafer, Emre Clinical report Mar 1, 2021 2113
Targeted Hot Spot Sequencing of Uzbek Lung Cancer Patients. Mirakbarova, Z.; Turdikulova, Sh Report Mar 1, 2021 3007
Angioedema without wheals: a clinical update. Gulbahar, Okan Report Mar 1, 2021 7832
Critical blood disorders couples should consider. Feb 22, 2021 688
Biocept to present study showcasing its ultra-sensative Target Selector biopsy assay kits at a virtual medical conference this week. Conference news Feb 17, 2021 616
Plasmodium falciparum Histidine-Rich Protein 2 and 3 Gene Deletions in Strains from Nigeria, Sudan, and South Sudan. Prosser, Christiane; Gresty, Karryn; Ellis, John; Meyer, Wieland; Anderson, Karen; Lee, Rogan; Cheng Report Feb 1, 2021 5725
Spread of Multidrug-Resistant Rhodococcus equi, United States. Alvarez-Narvaez, Sonsiray; Giguere, Steeve; Cohen, Noah; Slovis, Nathan; Vazquez-Boland, Jose A. Report Feb 1, 2021 4810
Vaccine-Derived Polioviruses, Central African Republic, 2019. Dote, Marie-Line JoffreJoel Wilfried; Gumede, Nicksy; Vignuzzi, Marco; Bessaud, Mael; Gouandjika-Vas Report Feb 1, 2021 2076
Applications of Cytokeratin Expression in the Diagnosis of Oral Diseases. Sonone, Archana; Hande, Alka; Gawande, Madhuri; Patil, Swati Jan 25, 2021 2741
Virus mutations down to chance, in more ways than one. Jan 24, 2021 759
Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening. Saboor, Muhammad; Mobarki, Abdullah Ahmed; Hamali, Hassan Abdu; Halawani, Amr Jamal; Abdullah, Saleh Report Jan 19, 2021 3005
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
What we know and don't know about new COVID-19 mutations. Jan 8, 2021 1031
US FDA Lists Applied DNA's Linea COVID-19 Assay Kit as 1 of Only 2 EUA-Authorized Tests Able to Detect S-Gene Mutation Found in SARS-CoV-2 UK Variant. Jan 8, 2021 599
Public health measures applied to deal with new COVID-19 strain: MOH. By: Times News Service Jan 5, 2021 228
Mutant COVID-19 virus mostly affects younger people. By: Times News Service Jan 5, 2021 384
SMARCA4/BRG1-Defident Non-Small Cell Lung Carcinomas: A Case Series and Review of the Literature. Nambirajan, Aruna; Singh, Varsha; Bhardwaj, Nishu; Mittal, Saurabh; Kumar, Sunil; Jain, Deepali Report Jan 1, 2021 6415
Proteus syndrome caused by novel somatic AKT1 duplication. AlAnzi, Talal; Al-mashharawi, Eman; Alhashem, Amal Clinical report Jan 1, 2021 2007
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation. Ciorba, Andrea; Corazzi, Virginia; Melegatti, Michela; Morgan, Anna; Pelliccione, Giulia; Girotto, G Jan 1, 2021 1783
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. Danda, Vijay Sheker Reddy; Paidipelly, Srinivas Rao; Verepula, Madhavi; Lodha, Piyush; Thaduri, Kris Jan 1, 2021 5371
Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy. Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-Ren Zhao, Rui Ma and Ming Yu Dec 31, 2020 1696
Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach. Rasheed, Muhammad Asif; Kanwal, Sumaira; Jamil, Farrukh; Ibrahim, Muhammad; Perveen, Shazia Report Dec 31, 2020 2333
Which countries have the new strain of Covid? List of places outside UK where coronavirus variant has been found; Genomic researchers have found the new and more infectious variant of Covid-19 has already spread around the UK, with cases identified in Wales and Scotland. Alex Nelson Dec 22, 2020 1125
Family History of Headache and Epistaxis Associated with Ischemic Stroke/Iskemik Inme ile Iliskili Ailede Bas Agrisi ve Epistaksis Oykusu. Choi, Eu Jene; Lee, Dong Goo; Kim, Do-Hyung; Jang, Sang Hyun Clinical report Dec 1, 2020 2032
Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series. Sethi, Aashish; Foulds, Nicola; Ehtisham, Sarah; Ahmed, Syed Haris; Houghton, Jayne; Colclough, Kevi Clinical report Dec 1, 2020 3973
Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Ustkoyuncu, Pembe Soylu; Gokay, Songul; Eren, Esra; Dogan, Durmus; Yildiz, Gokce; Yilmaz, Aysegul; M Clinical report Dec 1, 2020 2611
A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment. Verma, Vishesh; Singh, R.K. Clinical report Dec 1, 2020 2615
Pharaoh's Gift: Was Ancient Nubia the Land of Milk and Camels? Reinbold, Stephen L. Dec 1, 2020 6239
Tunisian research within two weeks to identify genetic mutations in SARS-Cov 2. Nov 5, 2020 298
Coronavirus mutation may have made it more contagious, study warns; Researchers from the University of Texas, Austin, have analysed more than 5,000 Covid-19 patients to understand how the SARS-CoV-2 virus has mutated. By, Shivali Best Nov 2, 2020 263
Multivariable Analysis of 169 Cases of Advanced Cutaneous Melanoma to Evaluate Antibiotic Exposure as Predictor of Survival to Anti-PD-1 Based Immunotherapies. Swami, Umang; Chennamadhavuni, Adithya; Borcherding, Nicholas; Bossler, Aaron D.; Mott, Sarah L.; Ga Nov 1, 2020 4591
Snapshot Study of Whole Genome Sequences of Escherichia coli from Healthy Companion Animals, Livestock, Wildlife, Humans and Food in Italy. Massella, Elisa; Reid, Cameron J.; Cummins, Max L.; Anantanawat, Kay; Zingali, Tiziana; Serraino, An Nov 1, 2020 11193
Development of Resistance in Escherichia coli ATCC25922 under Exposure of Sub-Inhibitory Concentration of Olaquindox. Gu, Yufeng; Wang, Shuge; Huang, Lulu; Sa, Wei; Li, Jun; Huang, Junhong; Dai, Menghong; Cheng, Guyue Nov 1, 2020 12351
Evaluation of Fluoroquinolone Resistance in Clinical Avian Pathogenic Escherichia coli Isolates from Flanders (Belgium). Temmerman, Robin; Garmyn, An; Antonissen, Gunther; Vanantwerpen, Gerty; Vanrobaeys, Mia; Haesebrouck Nov 1, 2020 7555
Detection of Low-Level Fosfomycin-Resistant Variants by Decreasing Glucose-6-Phosphate Concentration in Fosfomycin Susceptibility Determination. Martin-Gutierrez, Guillermo; Docobo-Perez, Fernando; Rodriguez-Martinez, Jose Manuel; Pascual, Alvar Nov 1, 2020 3747
Minor Changes In Immune Cells Have Major Effect On Immune Response. Oct 19, 2020 686
'Mutant worm' boost to cancer fight family; Tiny genetically modified creature raises drug hope. JAMES MONCUR Oct 17, 2020 304
Drinking coffee may protect some people against Parkinson's. Oct 15, 2020 306
Doses Delivered to Patients and Associated Risks from Conventional Radiological Scans in Yasuj City, Iran. Hassanvand, Amin; Masjedi, Hamid Reza; Vafapure, Hassan; Zamani, Hamed; Yazdi, Shiva Rahbar; Zare, M Oct 5, 2020 7943
Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population. Sezgin, Ilhan; Kayatas, Mansur; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Timucin Oct 1, 2020 3855
Combination Therapy Using Low-Concentration Oxacillin with Palmitic Acid and Span85 to Control Clinical Methicillin-Resistant Staphylococcus aureus. Song, Hun-Suk; Choi, Tae-Rim; Bhatia, Shashi Kant; Lee, Sun Mi; Park, Sol Lee; Lee, Hye Soo; Kim, Yu Report Oct 1, 2020 5258
Helicobacter pylori Primary and Secondary Genotypic Resistance to Clarithromycin and Levofloxacin Detection in Stools: A 4-Year Scenario in Southern Italy. Losurdo, Giuseppe; Giorgio, Floriana; Pried, Maria; Girardi, Bruna; Russo, Francesco; Riezzo, Giusep Clinical report Oct 1, 2020 3821
The importance of Mediterranean fever gene in familial Mediterranean fever. Kehribar, Demet Yalcin; Ozgen, Metin Report Oct 1, 2020 2635
An oncologist's view on screening mammography. Tkaczuk, Katherine H. Oct 1, 2020 1894
FDA approves triple-drug combination for melanoma. Mulcahy, Nick Oct 1, 2020 248
GENETIC DUTIES. Roberts, Jessica L.; Foulkes, Alexandra L. Oct 1, 2020 28023
Gut bacteria could reveal cures for major diseases. DR MIRIAM STOPPARD Sep 25, 2020 412
Gut bacteria could reveal cures for major diseases; DR MIRIAM STOPPARD 38 DAILY MIRROR FRIDAY 25.09.2020. Sep 25, 2020 407
AstraZeneca, Merck announce final results from Phase III PROfound trial. Sep 20, 2020 184
MyoKardia doses first patient in Phase 2 trial of danicamtiv. Sep 9, 2020 413
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency. Bulut, Fatma Derya; Dilek, Semine Ozdemir; Kotan, Damla; Mengen, Eda; Gurbuz, Fatih; Yuksel, Bilgin Sep 1, 2020 5584
The effect of [BRAF.sup.V600E] mutation on lymph node involvement in papillary thyroid cancer / Papiller tiroid kanserli hastalarda [BRAF.sup.V600E] mutasyonunun bolgesel lenf nodu tutulumuna etkisi. Sahin, Samet; Daglar, Gul; Menekse, Ebru; Cavdarli, Busranur; Baglan, Tolga Sep 1, 2020 4141
Analysis of Whole Genome Resequencing Datasets from a Worldwide Sample of Sheep Breeds to Identify Potential Causal Mutations Influencing Milk Composition Traits. Marina, Hector; Gutierrez-Gil, Beatriz; Esteban-Blanco, Cristina; Suarez-Vega, Aroa Report Sep 1, 2020 11053
Exploring the Genetic Background of the Differences in Nest-Building Behavior in European Rabbit. Benedek, Ildiko; Altbacker, Vilmos; C., Attila Zsolnai; Molnar, Tamas Report Sep 1, 2020 6455
Investigating the Polymorphism of Bone Morphogenetic Protein Receptor-1B (BMPR1B) Gene in Markhoz Goat Breed. Dogaheh, Sheila Pourali; Mirhoseini, Seyed Ziaeddin; Tufarelli, Vincenzo Report Sep 1, 2020 3348
Congenital Malformations in a Holstein-Fresian Calf with a Unique Mosaic Karyotype: A Case Report. Uzar, Tomasz; Szczerbal, Izabela; Serwanska-Leja, Katarzyna; Gogulski, Maciej; Bugaj, Szymon; Switon Clinical report Sep 1, 2020 3320
SDHB and SDHA Immunohistochemistry in Canine Pheochromocytomas. Abed, Firas M.; Brown, Melissa A.; Al-Mahmood, Omar A.; Dark, Michael J. Report Sep 1, 2020 2772
Bacteriophage-Induced Lipopolysaccharide Mutations in Escherichia coli Lead to Hypersensitivity to Food Grade Surfactant Sodium Dodecyl Sulfate. Zhong, Zeyan; Emond-Rheault, JeanGuillaume; Bhandare, Sudhakar; Levesque, Roger; Goodridge, Lawrence Report Sep 1, 2020 7464
Focal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression. Trimarchi, H. Aug 31, 2020 2765
Colonic Adenocarcinoma at Advanced Stage in Adolescence: Report of 2 Cases. Vundamati, Divya S.; Chen, Xiuxu; Singh, Vivekanand Aug 31, 2020 1687
Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases. Li, Yian; Li, Jiakai; Zhang, Xiang; Peng, Jie; Li, Jing; Zhao, Peiquan Aug 31, 2020 4515
Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism. Hashemian, Somayyeh; Esfehani, Reza Jafarzadeh; Karimdadi, Siroos; Vakili, Rahim; Zamanfar, Daniel; Aug 31, 2020 3568
Detection of BRAF V600E Mutation in Ganglioglioma and Pilocytic Astrocytoma by Immunohistochemistry and Real-Time PCR-Based Idylla Test. Durslewicz, Justyna; Klimaszewska-Wisniewska, Anna; Antosik, Paulina; Kasperska, Anna; Grzanka, Dari Aug 31, 2020 7425
Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population. Gutierrez-Castaneda, Luz D.; Gamboa, Mauricio; Nova, John A.; Pulido, Leonardo; Tovar-Parra, Jose D. Report Aug 31, 2020 7330
The Development and Application of a Base Editor in Biomedicine. Wang, Fang; Zeng, Yuqiang; Wang, Yi; Niu, Yuyu Report Aug 31, 2020 8466
Clinical Significance of PIK3CA Gene in Non-Small-Cell Lung Cancer: A Systematic Review and Meta-Analysis. Wang, Yi; Wang, Yan; Li, Jialong; Li, Jue; Che, Guowei Report Aug 31, 2020 4984
Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study. Cadi, Chaimaa Ait El; Charoute, Al Mehdi Krami Hicham; Elkarhat, Zouhair; Sifeddine, Najat; Lakhiari Report Aug 31, 2020 5744
"Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case. Bonnet, Anne-Laure; Sceosole, Kevin; Vanderzwalm, Arabelle; Silve, Caroline; Collignon, Anne-Margaux Aug 31, 2020 3382
Coronavirus strain mutation no cause for alarm, scientists say. Aug 19, 2020 897
Ocugen receives Orphan Drug designation for OCU400 gene therapy. Aug 10, 2020 387
3 new mutated COVID-19 strains detected in S. Korea: KCDC. Aug 10, 2020 381
3 new mutated COVID-19 strains detected in S. Korea. Aug 10, 2020 333
FDA Approves Genentech's Tecentriq plus Cotellic and Zelboraf for People with Advanced Melanoma. Aug 3, 2020 749
Molecular characteristics of colorectal hyperplastic polyp subgroups. Unlu, Mehtat; Uzun, Evren; Bengi, Goksel; Sagol, Ozgul; Sarioglu, Sulen Aug 1, 2020 3626
Molecular characteristics of colorectal hyperplastic polyp subgroups. Unlu, Mehtat; Uzun, Evren; Bengi, Goksel; Sagol, Ozgul; Sarioglu, Sulen Aug 1, 2020 3823
Cinema Science: Coronavirus Through the Lens of Contagion. Crewe, Dave Aug 1, 2020 2525
Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer. Wu, Jiande; Mamidi, Tarun K.K.; Zhang, Lu; Hicks, Chindo Jul 31, 2020 11240
Increased breast cancer testing would save thousands of lives; Broadening cancer gene testing to include the population of the UK could prevent almost 6,000 deaths from breast cancer each year and would prove cost effective according to an international study. Kevan Christie Jul 24, 2020 633
Benitec Biopharma provides update on BB-301 tissue transduction study. Jul 8, 2020 189
Myriad Genetics announces publication of two riskScore analyses. Jul 7, 2020 299
A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG. Demirtas, Coskun Ozer; Ata, Pinar; Cetin, Ali; Turkyilmaz, Ayberk; Duman, Deniz Guney Jul 1, 2020 3691
Novel Mutations with Clinical Variability and Surgical Experience in Van der Woude Syndrome. Ceylan, Ahmet Cevdet; Ozgur, Figen; Vargel, Ibrahim Jul 1, 2020 2653
A "Grey Swan" Malignant Melanoma: Implantation Metastasis on the Skin Graft Donor Site. Tabakan, Ibrahim; Yuvaci, Ahmet Umut; Gencel, Eyuphan; Acikalin, Arbil Jul 1, 2020 1283
A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG. Demirtas, Coskun Ozer; Ata, Pinar; Cetin, Ali; Turkyilmaz, Ayberk; Duman, Deniz Guney Jul 1, 2020 3630
Identification of 5 Gene Signatures in Survival Prediction for Patients with Lung Squamous Cell Carcinoma Based on Integrated Multiomics Data Analysis. Ma, Hongxia; Tong, Lihong; Zhang, Qian; Chang, Wenjun; Li, Fengsen Jun 30, 2020 7593
Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice. Geng, Guangrui; Xiao, Yunming; Zhang, Yingjie; Shen, Wanjun; Liu, Jiaona; Zhu, Fei; Wang, Xu; Wu, Ji Jun 30, 2020 3703
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data. Long, Wei; Zhou, Lingna; Wang, Ying; Liu, Jiaxuan; Wang, Huaiyan; Yu, Bin Jun 30, 2020 5410
Olaparib Outcomes in Patients with BRCA 1-2 Mutated, Platinum-Sensitive, Recurrent Ovarian Cancer in Croatia: A Retrospective Noninterventional Study. Majic, Ana; Mise, Branka Petric; Matkovic, Visnja; Lovasic, Ingrid Belac; Katic, Kristina; Canjko, I Jun 30, 2020 4374
Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis. Mikhaylenko, Dmitry S.; Tanas, Alexander S.; Zaletaev, Dmitry V.; Nemtsova, Marina V. Jun 30, 2020 10369
A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion. Baldi, Salem; Zhu, Jin-Ling; Hu, Qing-Yun; Wang, Ju-Li; Zhang, Jin-Bo; Zhang, Shu-Hong Jun 30, 2020 4732
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3. Saleem, Komal; Cui, Qingbo; Zaib, Tahir; Zhu, Siqi; Qin, Qian; Wang, Yusi; Dam, Jinxi; Ji, Wei; Liu, Jun 30, 2020 6011
Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism. Salameh, Rami; Miah, Mumtaheena; Anastasopoulou, Catherine Jun 30, 2020 1201
Germline Mutation in KIF1B[beta] Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma. De Filpo, Giuseppina; Contini, Elisa; Serio, Viola; Valeri, Andrea; Chetta, Massimiliano; Guasti, Da Jun 30, 2020 4564
FREQUENCY OF MPL AND JAK2 EXON12 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS. Sana Latif, Saleem Ahmed Khan, Asad Mahmood and Rafia Mahmood Jun 30, 2020 2460
Consanguinity, the driving force behind inheritance of HbS-[beta] thalassemia in Southern Districts of KP. Khan, Jabbar; Muhammad, Dost; Ismail, Muhammad; Khan, Inamullah; Rehman, Zia ur; Niaz, Shahid Report Jun 16, 2020 3814
Human Stem Cells Modeled To Identify Degeneration In Glaucoma. Jun 15, 2020 613
Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Acar, Sezer Letter to the editor Jun 1, 2020 767
A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation. Arslan, Gulcin; Acar, Sezer; Ozdemir, Taha Resid; Nalbantoglu, Ozlem; Kirbiyik, Ozgur; Koprulu, Ozge Jun 1, 2020 2855
Solitary Juvenile Colonic Polyp Presenting Anaemia in Patients with Neurofibromatosis Type 1: A Case Report/Norofibromatozis Tip 1 Hastasinda Anemi ile Seyreden Izole Kolon Juvenil Polip: Olgu Sunumu. Bostanci, Mustafa Taner; Yilmaz, Ibrahim; Saydam, Mehmet; Seki, Ahmet Jun 1, 2020 1433
A Leaky Noisy-OR Bayesian Network Applied to Genetic Counseling in Dogs. Detilleux, Johann. C. Jun 1, 2020 5304
Discovery of a Novel Mutation in DNA Gyrase and Changes in the Fluoroquinolone Resistance of Helicobacter pylori over a 14-Year Period: A Single Center Study in Korea. Rhie, Su Yeon; Park, Jae Yong; Shin, Tae-Seop; Kim, Jeong Wook; Kim, Beom Jin; Kim, Jae Gyu Report Jun 1, 2020 6387
Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome. Wu, Bo-Da; Wang, Yong-Jun; Fan, Liang-Liang; Huang, Hui; Zhou, Peng; Yang, Mei; Shi, Xiao-Liu May 31, 2020 4849
Anesthesia outside the Operating Room in a Patient with Mitochondrial Disease. Fadrique-Fuentes, Alejandra; Martinez-Rafael, Beatriz; Poves-Avarez, Rodrigo; Gomez-Pesquera, Estefa May 31, 2020 1789
The genetic landscape of COVID-19: A South Asian perspective. Thomas, Vineeth; Audsley, Jennifer; Kapoor, Nitin Report May 31, 2020 2577
Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer. Harpaz, Noa; Gatt, Yair Eli; Granit, Roy Zvi; Fruchtman, Hila; Hubert, Ayala; Grinshpun, Albert Clinical report May 31, 2020 6150
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma. Cinque, Luigia; Pugliese, Flavia; Clemente, Celeste; Castellana, Stefano; Leone, Maria Pia; de Marti May 31, 2020 3176
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family. Qiu, Yue; Chen, Sen; Wu, Xia; Zhang, Wen-Juan; Xie, Wen; Jin, Yuan; Xie, Le; Xu, Kai; Bai, Xue; Zhan May 31, 2020 4787
Regulation of Iron Homeostasis and Related Diseases. Li, Yikun; Huang, Xiali; Wang, Jingjing; Huang, Ruiling; Wan, Dan May 31, 2020 8903
Myriad Genetics presents new data on riskScore test. May 29, 2020 325
AstraZeneca's And Merck's Lynparza Approved In US For Prostate Cancer. May 20, 2020 211
Research Into Stem Cell Mutations Could Improve Regenerative Medicine. May 18, 2020 252
Biocept expands molecular assay offering with release of Target Selector BRAF kit. May 15, 2020 434
Novel GNE mutations in three Chinese patients with typical GNE myo-pathy. Ban, Rui; Lu, Xianghui; Pu, Chuanqiang; Shi, Qiang; Wang, Huifang; Liu, Huaxu; Zhang, Yutong Clinical report May 12, 2020 2706
Dave Hodgson, Somonauk (formerly of Naperville). May 6, 2020 411
Diabetes Reversed In Mice With CRISPR-Edited Stem Cells. May 4, 2020 829
USPSTF round-up: The Task Force now recommends that physicians take steps to prevent perinatal depression and has modified its recommendation on lead screening. Campos-Outcalt, Doug May 1, 2020 2402
Nationwide Monitoring for Plasmodium falciparum Drug-Resistance Alleles to Chloroquine, Sulfadoxine, and Pyrimethamine, Haiti, 2016-2017. Rogier, Eric; Herman, Camelia; Huber, Curtis S.; Hamre, Karen E.S.; Pierre, Baby; Mace, Kimberly E.; May 1, 2020 6023
22KD Zein Content Coordinates Transcriptional Activity during Starch Synthesis in Maize Endosperm. Sandrine, Ada Menie Nelly; Zhao, Hailiang; Qin, Yao; Sun, Qin; Gong, Dianming; Pan, Zhenyuan; Qiu, F May 1, 2020 6343
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
Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity. Jeong, Da Un; Lee, Jiyeong; Lim, Ki Moo Apr 30, 2020 6368
Molecular Assessment of Resistance to Clarithromycin in Helicobacter pylori Strains Isolated from Patients with Dyspepsia by Fluorescent In Situ Hybridization in the Center of Iran. Vazirzadeh, Jina; Falahi, Jamal; Moghim, Sharareh; Narimani, Tahmineh; Rafiei, Rahmatollah; Karbasiz Apr 30, 2020 4644
RAS Mutational Status Detection in Tissue, Plasma, and Stool Samples for Colorectal Cancer. Zhu, Liuying; Wang, Yuanhe; Zhou, Yang; Dong, Qian; Liu, Yunpeng; Zhang, Jingdong Apr 30, 2020 4465
Antiepithelial-Mesenchymal Transition of Herbal Active Substance in Tumor Cells via Different Signaling. Cui, Xiaoji; Lin, Qinlu; Huang, Ping; Liang, Ying Apr 30, 2020 6321
Thrombophilic Risk of Factor V Leiden, Prothrombin G20210A, MTHFR, and Calreticulin Mutations in Essential Thrombocythemia Egyptian Patients. El-Ghonemy, Mohamed S.; Sharawy, Solafa El; Fahmi, Maryan Waheeb; El-Ashwah, Shaimaa; Denewer, May; Apr 30, 2020 3978
Impact of the Italian Society of Anatomic Pathology and Diagnostic Cytology Classification of Thyroid Nodules in the Treatment of Indeterminate Follicular Lesions: Five-Year Results at a Single Center. Pastoricchio, M.; Cubisino, A.; Lanzaro, A.; Troian, M.; Zanconati, F.; Bernardi, S.; Fabris, B.; de Clinical report Apr 30, 2020 6093
FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS. Sana Latif, Saleem Ahmed Khan, Asad Mahmood, Helen Mary Robert and Rafia Mahmood Armed Apr 30, 2020 2496
Lung Transplantation in a Patient with COPA Syndrome. Mallea, Jorge M.; Kornafeld, Anna; Khoor, Andras; Erasmus, David B. Apr 30, 2020 824
Extensive In Silico Analysis of ATL1 Gene: Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A. Mustafa, Mujahed I.; Murshed, Naseem S.; Abdelmoneim, Abdelrahman H.; Abdelmageed, Miyssa I.; Elfado Apr 30, 2020 6512
Qiagen launches therascreen BRAF test as Braftovi companion diagnostic. Apr 15, 2020 158
Short Communication - Polymorphism Analysis of FMO3 Gene in Egg Quail. Bai, Jun Yan; Jia, Xiao Ping; Wu, Xiao Hong; Li, Guang Lu; Cao, Heng; Fu, Xue Yan; Shi, Kun Peng Report Apr 10, 2020 2565
Bilateral Paget's Disease of the Breast in a Patient with CHEK2 Mutation. Owusu-Brackett, Nicci; Menon, Preethi Dileep; Nazarullah, Alia; Jatoi, Ismail; Elmi, Maryam Apr 1, 2020 1515
Acquisition of Colistin Resistance Links Cell Membrane Thickness Alteration with a Point Mutation in the lpxD Gene in Acinetobacter baumannii. Saleh, Neveen M.; Hesham, Marwa S.; Amin, Magdy A.; Mohamed, Reham Samir Report Apr 1, 2020 6921
[NF.sub.1] microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1. Lopes, Jorge; Teixeira, Diogo; Sousa, Cristina; Baptista, Armando; Ferreira, Eduarda Osorio Apr 1, 2020 1432
Response to Dabrafenib and Trametinib of a Patient with Metaplastic Breast Carcinoma Harboring a BRAF V600E Mutation. Seo, Takuji; Noguchi, Emi; Yoshida, Masayuki; Mori, Taisuke; Tanioka, Maki; Sudo, Kazuki; Shimomura, Mar 31, 2020 3133
A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer. Robbins, Richard J.; Thomas, Jessica S.; Osuna, Patricia Mejia; Shakil, Jawairia Mar 31, 2020 1427
Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq. Amin, Shaema Salih; Jalal, Sana Dlawar; Ali, Kosar Muhammed; Mohammed, Ali Ibrahim; Rasool, Luqman K Mar 31, 2020 8254
Gene Expression Analysis of Human Papillomavirus-Associated Colorectal Carcinoma. Qiu, Qiancheng; Li, Yazhen; Fan, Zhiqiang; Yao, Fen; Shen, Wenjun; Sun, Jiayu; Yuan, Yumeng; Chen, J Mar 31, 2020 8239
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family. Li, Bin; Lu, Bin; Guo, Xuewen; Hu, Shenghui; Zhao, Guihu; Huang, Weihong; Hu, Jianzhong; Song, Kun Mar 31, 2020 5693
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework. Cheng, Liting; Li, Xiaoyan; Zhao, Lin; Wang, Zefeng; Zhang, Junmeng; Liang, Zhuo; Wu, Yongquan Mar 31, 2020 6939
French Gene Therapy Specialist Horama Signs Exclusive License Agreement with Leiden University Medical Center. Mar 19, 2020 396
DermTech says study shows TERT analyses, PLA improves test sensitivity. Mar 16, 2020 206
Metagenomics of Imported Multidrug-Resistant Mycobacterium leprae, Saudi Arabia, 2017. Guan, Qingtian; Almutairi, Talal S.; Alhalouli, Tahani; Pain, Arnab; Alasmari, Faisal Report Mar 1, 2020 1237
HYPER-PERSONALIZED MEDICINE: Novel drugs are being designed to treat unique genetic mutations. Regalado, Antonio Mar 1, 2020 387
Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His. Aashiq, Mohamed; Malallah, Asma Jassim; Khan, Farheen; Alsada, Maryam Mar 1, 2020 2223
Whole-Genome Resequencing of Twenty Branchiostoma belcheri Individuals Provides a Brand-New Variant Dataset for Branchiostoma. Bi, Changwei; Lu, Na; Han, Tingyu; Huang, Zhen; Chen, J.-Y.; He, Chunpeng; Lu, Zuhong Mar 1, 2020 11096
Characterizations of Gene Alterations in Melanoma Patients from Chinese Population. Luo, Yi; Zhang, Zhenzhen; Liu, Jianfan; Li, Linqing; Xu, Xuezheng; Yao, Xinyu; Dai, Zixun; Wang, Xin Mar 1, 2020 5224
The Value of Next-Generation Sequencing for Treatment in Non-Small Cell Lung Cancer Patients: The Observational, Real-World Evidence in China. Zhang, Yan; Shen, Wen-Xiang; Zhou, Li-Na; Tang, Min; Tan, Yue; Feng, Chun-Xia; Li, Ping; Wang, Li-Qi Mar 1, 2020 4100
Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors. Terrones-Lozano, Alejandro; Hernandez-Hernandez, Alan; Vera, Edgar Nathal; Guinto-Nishimura, Gerardo Mar 1, 2020 3581
Italian Men Tested for BRCA1/2 Mutation: Psychological Distress during 6-Month Follow-Up. Pellini, F.; Mirandola, S.; Granuzzo, E.; Urbani, S.; Leopardi, G. Piccinni; Pollini, G.P. Mar 1, 2020 3425
Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis. Pogoda, Katarzyna; Niwinska, Anna; Sarnowska, ElZbieta; Nowakowska, Dorota; Jagiello-Gruszfeld, Agni Mar 1, 2020 5613
Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region. Malkondu, Fatma; Arikoglu, Hilal; Kaya, Dudu Erkoc; Bozkurt, Banu; Ozkan, Fehmi Mar 1, 2020 4051
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
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia. Isik, Esra; Onay, Huseyin; Atik, Tahir; Solmaz, Asli Ece; Ozen, Samim; Cogulu, Ozgur; Darcan, Sukran Mar 1, 2020 1970
Baricitinib in therapy of COPA syndrome in a 15-year-old girl. Krutzke, Sophia; Rietschel, Christoph; Horneff, Gerd Mar 1, 2020 3068
Osseous Findings in Sickle Cell Disease. Kennedy, Daniel P.; Hooker, Jeffrey D.; Morris, Robert W. Mar 1, 2020 1651
20 Most rare diseases. Feb 27, 2020 1724
Screening of Deletion Variants within the Goat PRDM6 Gene and Its Effects on Growth Traits. Wang, Zhen; Wang, Congliang; Guo, Yongni; She, Shuaishuai; Wang, Baojing; Jiang, Yuru; Bai, Yangyang Report Feb 1, 2020 5811
Gene Test Might Spot Soccer Players at High Risk for Brain Trouble. Steven Reinberg, HealthDay Reporter Jan 27, 2020 748
Mutations In Donors' Stem Cells May Cause Problems For Cancer Patients. Jan 27, 2020 1015
Scientists unveil drug-duo to fight off cancer. ANI Jan 24, 2020 453
Acid Sphingomyelinase Deficiency Type C - Pipeline Review, H2 2019. Jan 20, 2020 974
Cancers and immune system engaged in 'evolutionary arms race'. Press Association Jan 16, 2020 562
Bid to help others with condition. CHRIS MARZELLA Jan 8, 2020 421
ILL BABIES' LIFESAVER DNA TESTS; Genetic mutations pinpointed. MARTIN BAGOT Health Editor Jan 3, 2020 172
Verification and Analysis of Sheep Tail Type-Associated PDGF-D Gene Polymorphisms. Li, Qing; Lu, Zengkui; Jin, Meilin; Fei, Xiaojuan; Quan, Kai; Liu, Yongbin; Ma, Lin; Chu, Mingxing; Report Jan 1, 2020 5850
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
Next-Generation Sequencing Panel Analysis of Clinically Relevant Mutations in Circulating Cell-Free DNA from Patients with Gestational Trophoblastic Neoplasia: A Pilot Study. Luo, Lingxiao; Lin, Ling; Zhang, Xiaoyan; Cai, Qingqing; Zhao, Hongbo; Xu, Congjian; Cong, Qing Report Jan 1, 2020 4380
Characteristics of Children with Alagille Syndrome at Children's Hospital No. 1, Vietnam. Van Ta, Tram; Nguyen, Truong Viet; Pham, Hien The; Nguyen, Tuan Anh Report Jan 1, 2020 2567
ETV6: A Candidate Gene for Predisposition to "Blend Pedigrees"? A Case Report from the NEXT-Famly Clinical Trial. Bernardi, Simona; Farina, Mirko; Zanaglio, Camilla; Cattina, Federica; Polverelli, Nicola; Schieppat Jan 1, 2020 4713
Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? Viallard, Jean-Francois; Parrens, Marie; Rieux-Laucat, Frederic Jan 1, 2020 4193
Candidatus Mycoplasma haemohominis in Human, Japan. Hattori, Norimichi; Kuroda, Makoto; Katano, Harutaka; Takuma, Takahiro; Ito, Takayoshi; Arai, Nana; Jan 1, 2020 4591
Retrospective Review of 374 Samples, Circulating DNA; As a Biomarker Assay to Support Clinical Management in Solid Tumors Treated with Multi Targeted Epigenetic Therapy (MTET). Nezami, M.; Klowsowski, C.; Hager, S.J. Report Jan 1, 2020 1740
Prospective Molecular Profiling of Circulating Tumor Cells from Patients with Melanoma Receiving Combinatorial Immunotherapy. Lin, Selena Y.; Chang, Shu-Ching; Lam, Stella; Ramos, Romela Irene; Tran, Kevin; Ohe, Shuichi; Salom Jan 1, 2020 5664
BRCA2 gene mutation and prostate cancer risk: Comprehensive review and update. Junejo, Noor N.; AlKhateeb, Sultan S. Jan 1, 2020 7130
Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation. Lasky, Lizl; Bliss, Lindsay; Sidiropoulos, Christos Dec 31, 2019 1236
Genotypes and Hot Spot Mutations of Hepatitis B Virus in Northwest Chinese Population and Its Correlation with Diseases Progression. Wang, Wei; Shu, Yi; Bao, Han; Zhao, Wenliang; Wang, Weihua; Wang, Qin; Lei, Xiaoying; Cui, Daxiang; Dec 31, 2019 7128
Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy. Meng, Lingzhang; Cao, Shan; Lin, Na; Zhao, Jingjie; Cai, Xulong; Liang, Yonghua; Huang, Ken; Lin, Ma Dec 31, 2019 3915
Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature. Torresan, Francesca; Iacobone, Maurizio Dec 31, 2019 7879
Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families. Qiu, Yue; Chen, Sen; Xie, Le; Xu, Kai; Lin, Yi; Bai, Xue; Zhang, Hui-Min; Liu, Xiao-Zhou; Jin, Yuan; Dec 31, 2019 4145
Genentech meets primary endpoint in Phase III IMspire150 study of BRAF V600 mutation-positive advanced melanoma. Dec 17, 2019 164
Genentech meets primary endpoint in Phase III IMspire150 study of BRAF V600 mutation-positive advanced melanoma. Dec 17, 2019 160
Brain Disorder Fixed With Epigenome Edit. Dec 15, 2019 543
Roche announces positive Phase III study results for Tecentriq plus Cotellic and Zelboraf in people with previously untreated BRAF V600 mutation-positive advanced melanoma. Dec 13, 2019 1275
The gene-culture coevolution theory. Dec 13, 2019 637
BRCA Gene Screen Recommendations: The U.S. Preventive Services Task Force has issued new recommendations on who should be tested for the breast cancer genes. Marcom, P. Kelly Dec 1, 2019 768
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China. Xu, Aijing; Cheng, Jing; Sheng, Huiying; Wen, Zhe; Lin, Yunting; Zhou, Zhihong; Zeng, Chunhua; Shao, Report Dec 1, 2019 6975
Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report. Kautsar, Ahmad; Wit, Jan M.; Pulungan, Aman Dec 1, 2019 3594
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent. Poyrazoglu, Sukran; Hwa, Vivian; Bas, Firdevs; Dauber, Andrew; Rosenfeld, Ron; Darendeliler, Feyza Dec 1, 2019 3923
A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation. Kang, Sol; Kang, Young Kyung; Lee, Jun Ah; Kim, Dong Ho; Lim, Jung Sub Dec 1, 2019 2545
Metaplastic Breast Carcinoma: Update on Histopathology and Molecular Alterations. McMullen, Emily R.; Zoumberos, Nicholas A.; Kleer, Celina G. Dec 1, 2019 3740
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas. Kurtulgan, Hande Kucuk; Altuntas, Emine Elif; Yildirim, Malik Ejder; Ozdemir, Ozturk; Bagci, Binnur; Dec 1, 2019 5750
Structure and function of the insulin receptor--a personal perspective. Kasuga, Masato Dec 1, 2019 5419
Cupid and Psyche system for the diagnosis and treatment of advanced cancer. Sugiyama, Akira; Kawamura, Takeshi; Tanaka, Toshiya; Doi, Hirofumi; Yamashita, Takefumi; Shinoda, Ke Disease/Disorder overview Dec 1, 2019 4525
Patients with FMF Associated Spondyloarthropathy Who Has Heterozygous M694V Mutation: A Case Report/Heterozygous M694V Mutasyonu Olan FMF Iliskili Spondiloartropatili Hastalar: Bir Olgu Sunumu. Cerrahoglu, Ayse Beyhan Lale; Alpturker, Kezban Armagan Dec 1, 2019 2118
Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome. Senthilraja, Manickavasagam; Chapla, Aaron; Jebasingh, Felix K.; Naik, Dukhabhandhu; Paul, Thomas V. Nov 30, 2019 1866
Mutation Profiling of Premalignant Colorectal Neoplasia. Karczmarski, Jakub; Goryca, Krzysztof; Pachlewski, Jacek; Dabrowska, Michalina; Pysniak, Kazimiera; Nov 30, 2019 6457
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis. Feng, Liuxing; Hong, Shifu; Gao, Jin; Li, Jiayi Nov 30, 2019 3329
Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers. Mamidi, Tarun Karthik Kumar; Wu, Jiande; Hicks, Chindo Nov 30, 2019 10642
Identification of Two DNMT3A Mutations Compromising Protein Stability and Methylation Capacity in Acute Myeloid Leukemia. Bruno, Samantha; Bochicchio, Maria Teresa; Franchini, Eugenia; Padella, Antonella; Marconi, Giovanni Nov 30, 2019 5237
Tumor Mutational Burden and Genomic Alterations in Chinese Small Cell Lung Cancer Measured by Whole-Exome Sequencing. Su, Shan; Zeng, Jian-Jun Zou Yun-Yun; Cen, Wen-Chang; Zhou, Wei; Liu, Yan; Su, Duo-Hua; Zhang, Xian- Nov 30, 2019 4357
Optical Coherence Tomography of Animal Models of Retinitis Pigmentosa: From Animal Studies to Clinical Applications. Nakazawa, Mitsuru; Hara, Aiko; Ishiguro, Sei-ichi Nov 30, 2019 8592
Study Supports PSA Screening for Male BRCA2 Carriers; Further follow-up needed to assess benefit of PSA screening in male BRCA1 mutation carriers. Nov 27, 2019 264
Cancer Cells Increase DNA Mutations to Evade Treatment. Nov 10, 2019 784
Study reveals gene link to brain disease; SCIENCE. NINA MASSEY Nov 5, 2019 236
A Gene Kept One Woman From Developing Alzheimer's -- Could It Help Others? Alan Mozes, HealthDay Reporter Nov 4, 2019 726
New Hope for Cystic Fibrosis: Phase 3 Trial. Nov 2, 2019 552
Drug Trio Could Give Patients With Cystic Fibrosis a New Option. Nov 1, 2019 646
The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study. Barman, Hasan Ali; Ikitimur, Baris; Avci, Burcak Kilickiran; Durmaz, Eser; Atici, Adem; Aslan, Serka Nov 1, 2019 3509
Cystic Fibrosis Liver Disease: Know More. Sinani, Siham Al; Mulaabed, Sharef Al-; Naamani, Khalid Al; Sultan, Rabab Nov 1, 2019 5090
HIV Drug Resistance among Patients Failing Therapy at a Tertiary Center in Oman: A Case Record Review. Omairi, Omaira Al-; Elgalib, Ali; Kindi, Hanan Al Nov 1, 2019 3346
Update in Genetics and Surgical Management of Primary Congenital Glaucoma. Mocan, Mehmet C.; Mehta, Amy A.; Aref, Ahmad A. Disease/Disorder overview Nov 1, 2019 7742
Modulation of ERQC and ERAD: A Broad-Spectrum Spanner in the Works of Cancer Cells? Tax, Gabor; Lia, Andrea; Santino, Angelo; Roversi, Pietro Oct 31, 2019 11715
Study finds treatment for blindness causing syndrome. ANI Oct 26, 2019 477
Clinical Profile of Patients of Sickle Cell Crisis in a Rural Tertiary Care Hospital. Verghese, Betty; Acharya, Sourya; Khandekar, Aditya; Shukla, Samarth; Acharya, Neema Oct 21, 2019 3367
HAEMOCHROMATOSIS: You might have this blood disorder -- millions do and don't know it. Oct 20, 2019 749
Haemochromatosis: You might have blood disorder -most common genetic condition in the West; Most people have never heard of haemochromatosis -yet it's the most common genetic condition in the Western world. By, Rosie Hopegood Oct 20, 2019 847
Biocept's validation testing of Target Selector for cancer mutations published in peer-review journal. Oct 8, 2019 435
Gene mutations cause beautiful colors for torties, calicos. Oct 6, 2019 501
Gene mutations cause beautiful colors for torties and calicos. Oct 6, 2019 496
CRISPRed Fruit Flies Mimic Monarch Butterfly. Oct 3, 2019 1753
AHA News: Entertainment Exec Mathew Knowles: I Have Breast Cancer. Oct 2, 2019 883
New Guidelines for Assessing Risk of Breast and Ovarian Cancers. Disease/Disorder overview Oct 1, 2019 156
New Approach Needed for Biopsy Testing. Oct 1, 2019 304
Developmental Toxicity Assessment of Piperonyl Butoxide Exposure Targeting Sonic Hedgehog Signaling and Forebrain and Face Morphogenesis in the Mouse: An in Vitro and in Vivo Study. Everson, Joshua L.; Sun, Miranda R.; Fink, Dustin M.; Heyne, Galen W.; Melberg, Cal G.; Nelson, Kia Report Oct 1, 2019 10723
The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey. Celep, Gokce; Durmaz, Zeynep Hulya; Erdogan, Yalciner; Akpinar, Seviye; Kaya, Saban Abdullah; Guckan Oct 1, 2019 4750
Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies. Sarode, Venetia R.; Robinson, Linda Oct 1, 2019 7297
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
Emerging Perspective: Role of Increased ROS and Redox Imbalance in Skin Carcinogenesis. Xian, Dehai; Lai, Rui; Song, Jing; Xiong, Xia; Zhong, Jianqiao Sep 30, 2019 8707
Long-Term Outcome in Patients with a Solitary Peutz-Jeghers Polyp. Iwamuro, Masaya; Aoyama, Yuki; Suzuki, Seiyuu; Kobayashi, Sayo; Toyokawa, Tatsuya; Moritou, Yuki; Ho Sep 30, 2019 2610
Lynparza more than doubled the time without radiographic disease progression in patients with BRCA1/2- or ATM-mutated metastatic castration-resistant prostate cancer. Sep 30, 2019 900
AstraZeneca, Merck presents results from Phase 3 PROfound trial of LYNPARZA. Sep 30, 2019 545
Are Mutants Real? Scientists Say Yes And Why. Darwin Malicdem Sep 26, 2019 392
Taiwan ranked No. 1 in 'Asian flush' sufferers in world: Stanford study. Sep 20, 2019 469
Screening for Breast Cancer in Men Has Increased Over Time; Risk higher for older age, Ashkenazi descent, genetic mutations, and personal, first-degree family hx. Sep 17, 2019 263
Isogenic Cell Lines Market: Regional Growth Size Trends Focusing on Manufacturers Recorded during 20. Sep 16, 2019 1005
Bartter Syndrome Treatment Market: Geographical Expansion & Development Status Recorded during 2019-. Sep 14, 2019 1208
Bartter Syndrome Treatment Market: Geographical Expansion & Development Status Recorded during 2019-. Sep 13, 2019 1223
Gene Mutations That Cause Left-Handedness Identified. Sep 9, 2019 426
Strategy to boost cancer medicines with "Lazarus effect". Sep 6, 2019 1187
Do Genetic Mutation Play A Role In The Duration Of Our Sleep? Sep 5, 2019 457
The genetic mutation most people don't know about -- but should. Sep 4, 2019 824
IMV Inc. signs research drug development collaboration with Wistar Institute. Sep 4, 2019 139
Mutations in DNA affect how we age. Sep 3, 2019 115
DNA link to ageing; MINUTE BRIEFING. Sep 3, 2019 137
Prevalence of isoniazid resistance-conferring mutations associated with multidrug-resistant tuberculosis in Free State Province, South Africa. Pitso, L.; Potgieter, S.; van der Spoel van Dijk, A. Sep 1, 2019 5718
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy. Oswiecimska, Joanna; Dawidziuk, Mateusz; Gambin, Tomasz; Ziora, Katarzyna; Marek, Marta; Rzonca, Syl Clinical report Sep 1, 2019 4480
Gene Therapy Trials: Applications and the limitations of real-world data. Ooms, Karen Sep 1, 2019 2601
A Child Diagnosed With Treatment-Resistant Polyarteritis Nodosa: Can the Clinical Diagnosis be Different? Alaygut, Demet; Alparslan, Caner; Oncel, Elif Perihan; Mutlubas, Fatma; Ozdemir, Tunc; Yavascan, Ond Sep 1, 2019 2579
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan. Sharif, Yasir; Irshad, Saba; Tariq, Anam; Rasheed, Sana; Tariq, Muhammad H. Report Sep 1, 2019 4429
The Role of Interleukin-1 Beta C-511T as a Modifier Polymorphism in Cryopyrin-associated Periodic Syndromes. Ozyilmaz, Berk; Ozdemir, Taha Resid Sep 1, 2019 2515
Invasive bilateral breast cancer and high grade serous ovarian cancer with BRCA1-germline mutation and brainstem metastasis under PARP inhibitors. Zahari, Mihaela Marioara; Chiorean, Angelica Rita; Duma, Maria Magdalena; Ungureanu, Andrei; Kacso, Sep 1, 2019 2247
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
Low-density lipoprotein receptor gene mutation at Exon 2 and 4 in premature coronary artery disease in our population. Aug 31, 2019 3149
Genome-Editing a Broad Range of Mutations. Aug 25, 2019 1003
Lynparza Phase 3 PROfound Trial in HRR Mutation-Selected Metastatic Castration-Resistant Prostate Cancer Met Primary Endpoint. Aug 8, 2019 408
Merck, AstraZeneca report PROfound trial met primary endpoint. Aug 7, 2019 230
Primary immunodeficiency in Africa--a review. Erjaee, A.; Bagherpour, M.; van Rooyen, C.; van den Berg, S.; Kinnear, C.J.; PhD; Green, R.J.; Peppe Aug 1, 2019 8400
Clear Cell Sarcoma of the Kidney. Aw, Sze Jet; Chang, Kenneth Tou En Aug 1, 2019 3577
Investigation Between MTHFR A1298C polymorphism and Oral Squamous Cell Carcinoma Risk in Turkish Population/Turk Toplumunda MTHFR A1298C Polimorfizmi ile Oral Skuamoz Hucre Karsinom Gelisim Riski Arasindaki Iliskinin Arastirilmasi. Kucukhuseyin, Ozlem; Kayhan, Kivanc Bektas; Unur, Meral; Aydogan, Hulya Yilmaz Aug 1, 2019 5116
Multiple Molecular Targets Associated with Genomic Instability in Lung Cancer. Soca-Chafre, Giovanny; Montiel-Davalos, Angelica; De La Rosa-Velazquez, Inti Alberto; Caro-Sanchez, Jul 31, 2019 5383
A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements. Ellsworth, Darrell L.; Turner, Clesson E.; Ellsworth, Rachel E. Jul 31, 2019 8453
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
The genetic mutation most people don't know about - but should. Jul 31, 2019 824

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