Title |
Author |
Type |
Date |
Words |
Gene research to offer new hope to mums like Fay. |
KALI LINDSAY Reporter kali.lindsay@reachplc.com |
|
Feb 2, 2021 |
850 |
RETROSPECTIVE DATA REVIEW TO FIND THE ASSOCIATION OF LUMBOSACRAL TRANSITIONAL VERTEBRA AND DEGENERATIVE DISC DISEASE IN YOUNG PATIENTS. |
Nadia Gul, Khalid Mehmood and Muhammad Ikram |
|
Dec 31, 2020 |
2738 |
Evaluation of third molar agenesis associated with hypodontia and oligodontia in turkish pediatric patients. |
Atay, Meltem Tekbas; Ozveren, Neslihan; Serindere, Gozde |
Report |
Dec 1, 2020 |
4925 |
EFFECTIVENESS OF PIRANI SCORE IN PREDICTING SELECTION OF ACHILLES TENOTOMY IN IDIOPATHIC CLUBFOOT: A CASE CONTROL STUDY. |
Ahmed Mushtaq Khan, Syed Faraz Anwar, Anas Bin Saif and Saeed Akhtar Awan |
|
Oct 31, 2020 |
2400 |
Neurodevelopmental Outcomes of Preterm Small for Gestational Age and Appropriate for Gestational Age Babies at One Year of Age. |
Rani, Rino Rakesh Kesary; Antony, Babu Francis Chirayath; Kuzhiyil, Aslam Pala |
Clinical report |
Oct 26, 2020 |
4502 |
Correlation of ECG Changes with Coronary Angiographic Findings in Patients of Coronary Artery Disease. |
Somani, Ayush P.; Khadse, Satish R.; Kumar, Sunil; Acharya, Sourya; Gattani, Shreya C.; Baheti, Amit |
|
Aug 3, 2020 |
3510 |
Neurocrine: Phase II crinecerfont study showed reductions in key biomarkers. |
|
|
Jun 8, 2020 |
186 |
Parents want mental health support to reduce stress of children's hospitalizations: Study. |
ANI |
|
Nov 14, 2019 |
485 |
Why men should stop drinking alcohol before conception-study. |
|
|
Oct 5, 2019 |
382 |
Aspiring parents should avoid alcohol six months before conception: Study. |
ANI |
|
Oct 3, 2019 |
409 |
Laparoscopic resection of choledochal cysts in adults: a series from Turkey. |
Gundogan, Ersin; Sumer, Fatih; Colakoglu, Muhammed Kadri; Cicek, Egemen; Gokler, Cihan; Aydm, Mehmet |
|
Sep 1, 2019 |
2336 |
Minimally invasive technique of placing a dual chamber permanent pacemaker in children. |
|
Report |
Aug 31, 2019 |
2796 |
Impact of pediatric cardiac surgery regionalization on health care utilization and mortality. |
Sakai-Bizmark, Rie; Mena, Laurie A.; Kumamaru, Hiraku; Kawachi, Ichiro; Marr, Emily H.; Webber, Eliz |
|
Aug 1, 2019 |
9294 |
AN ELDERLY PATIENT WITH FINDINGS OF PNEUMONIA WAS FOUND TO HAVE INCIDENTAL MORGAGNI HERNIA. |
Sanaydin, Mehmet; Algin, Abdullah; Colak, Sahin; Barutcu, Sezgin; Sirik, Mehmet; Tutak, Ayse Sahin |
Report |
Jul 1, 2019 |
1227 |
Preventable warfarin-induced birth defects: A missed opportunity? |
Conradie, M.; Henderson, B.D.; van Wyk, C. |
Report |
Jun 1, 2019 |
6080 |
Study on the Potential Biomarkers of Maternal Urine Metabolomics for Fetus with Congenital Heart Diseases Based on Modified Gas Chromatograph-Mass Spectrometer. |
Xie, Donghua; Luo, Yingchun; Xiong, Xiyue; Lou, Mingxing; Liu, Zhiyu; Wang, Aihua; Xiong, Lili; Kong |
|
May 31, 2019 |
5987 |
A case of an absent gall bladder presenting as biliary colic in a tertiary care hospital in Karachi. |
|
Report |
May 31, 2019 |
1523 |
Common Diseases, Drugs, Top Reasons For Birth Defects At LUTH -Study. |
|
|
Apr 11, 2019 |
508 |
Scimitar syndrome: A rare case of recurrent pneumonia. |
|
Report |
Mar 31, 2019 |
1138 |
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 |
Hereditary Disorders Mimicking Progressive Multiple Sclerosis. |
Karaaslan, Zerrin |
Report |
Mar 1, 2019 |
974 |
New Type of Immune Cells for Heart. |
|
|
Feb 25, 2019 |
1016 |
Chanarin-Dorfman syndrome. |
Kalyon, Semih; Gokden, Yasemin; Demirel, Naciye; Erden, Burak; Turkyilmaz, Ayberk |
Case study |
Jan 1, 2019 |
1367 |
Zika Virus Infection during Pregnancy and Effects on Early Childhood Development, French Polynesia, 2013-2016. |
Subissi, Lorenzo; Dub, Timothee; Besnard, Marianne; Mariteragi-Helle, Teheipuaura; Nhan, Tuxuan; Lut |
|
Oct 1, 2018 |
7080 |
Nasopharyngeal Glial Heterotopia with Intracranial Extension: A Case Report. |
Gokler, Ozan; Karanfil, Isil; Kocak, Ilker; Altuntas, Muzaffer Ozan; Armutlu, Ayse; Unal, Omer Faruk |
Case study |
Sep 1, 2018 |
1478 |
CONSANGUINITY AND RISK OF CONGENITAL DEFECTS- A SYSTEMATIC REVIEW. |
Hemant, Charmode Sundip; Huchechesha, Kadlimatti |
Report |
Jul 30, 2018 |
4997 |
Whole Exome Sequencing as a Diagnostic Tool for Genetic Disorders in Pakistan. |
|
Report |
Jun 30, 2018 |
971 |
COMPARISON OF OXIDATIVE STRESS AND TELOMERE DYSFUNCTION IN HYPERTENSION PATIENTS. |
Prashanth, B.V.; Giri, Subhash; Yashaswini, P. |
Report |
Jun 25, 2018 |
4105 |
A Rare Presentation of Anterior Mediastinal Teratoma Mimicking Valvular Heart Disease with A Systolic Murmur. |
Lip, Henry Tan Chor; Huei, Tan Jih; Wahid, Adrena Abdul; Vendargon, Simon Jerome |
Case study |
Jun 1, 2018 |
1592 |
Life quality of children with congenital heart diseases. |
Sertcelik, Tamay; Alkan, Fatos; Sapmaz, Sermin Yalin; Coskun, Senol; Eser, Erhan |
Report |
Jun 1, 2018 |
5821 |
Baby's heart defects tied to mom's heart trouble: Study. |
|
|
Apr 4, 2018 |
338 |
Adults with congenital heart defects at high risk of gland cancer. |
|
|
Apr 3, 2018 |
353 |
Adults with congenital heart defects at high risk of gland cancer. |
|
|
Apr 3, 2018 |
412 |
TROCHLEAR DYSPLASIA--CONGENITAL ANOMALY OR BIOMECHANICAL DEVELOPMENT/TROHLEARNA DISPLAZIJA--KONGENITALNA ANOMALIJA ILI BIOMEHANICKIRAZVOJ. |
Temelkovski, Zlatko; Bozinovski, Zoran; Andonovski, Alan; Andonovska, Biljana |
|
Mar 1, 2018 |
1907 |
Three Cases of Congenital Retinal Macrovessel, One Coexisting with Cilioretinal Artery. |
Gulpamuk, Bayram; Kaya, Pinar; Teke, Mehmet Yasin |
Report |
Jan 1, 2018 |
1026 |
Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome. |
Ghafri, Aziza Al; Fida, Alaeddin; Gharras, Abdulaziz Al- |
Case study |
Jan 1, 2018 |
1452 |
High blood sugar in early pregnancy could cause heart problems for baby. |
|
|
Dec 18, 2017 |
613 |
Autoimmune-associated Congenital Heart Block: A New Insight in Fetal Life. |
Zhou, Kai-Yu; Hua, Yi-Min |
Report |
Dec 1, 2017 |
7198 |
A Huge Congenital Left Atrial Appendage Aneurysm. |
Wang, He-Qing; Zhang, Zhe; Yang, Hang; Wu, Song; Fu, Yuan-Hao; Song, Zhi-Ming; Wan, Feng |
Case study |
Dec 1, 2017 |
1143 |
THE ACCURACY OF DOPPLER ULTRASONOGRAPHY IN THE FOLLOWUP OF PYELOPLASTY FOR CONGENITAL PELVIURETERIC JUNCTION OBSTRUCTION. |
Bhat, Suresh; Joseph, Sachin; Paul, Fredrick; Shetty, Suyog |
Report |
Nov 27, 2017 |
2197 |
Children lose out in heart research. |
|
|
Nov 23, 2017 |
426 |
Children lose out in heart research. |
|
|
Nov 23, 2017 |
423 |
Children lose out in heart research. |
|
|
Nov 23, 2017 |
422 |
Children lose out in heart research. |
|
|
Nov 23, 2017 |
424 |
A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis. |
Liu, Jing; Bu, Juan |
Report |
Nov 20, 2017 |
2213 |
Congenital longitudinal melanonychia: a case report. |
Skornsek, Nina; Barac, Tijana Oresic; Marko, Pij Bogomir |
Case study |
Oct 1, 2017 |
1259 |
Aplasia cutis congenita with rare association and unusual presentation. |
|
Report |
Sep 30, 2017 |
1239 |
Concepts in Understanding Oral Field Cancerization: A Brief Review. |
Sarangi, Snehanjan; Aich, Ritesh |
Report |
Jul 1, 2017 |
3612 |
Animal study: Stem cell-derived 3D skin treats backbone birth defect. |
|
|
Jun 26, 2017 |
716 |
Animal study: Stem cell-derived 3D skin treats backbone birth defect. |
|
|
Jun 26, 2017 |
715 |
Animal study: stem cell-derived 3D skin treats backbone birth defect. |
|
|
Jun 19, 2017 |
723 |
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease. |
Hegde, Madhuri; Santani, Avni; Mao, Rong; Ferreira-Gonzalez, Andrea; Weck, Karen E.; Voelkerding, Ka |
Report |
Jun 1, 2017 |
6190 |
Incidentally Detected Gastric Foregut Duplication Cyst: A Case Report. |
Bayraktar, Adem; Bakkaloglu, Huseyin; Cucuk, Omer Cenk; Keskin, Metin; Gok, Ali Fuat Kaan; Taskin, O |
Case study |
Jun 1, 2017 |
1103 |
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 |
The Association of Choledochal Cyst and Pancreatitis: A Case Report and Review of the Literature/Koledok Kisti ve Pankreatit Birlikteligi: Olgu Sunumu ve Literaturun Gozden Gecirilmesi. |
Appak, Yeliz Cagan; Gunsar, Cuneyt; Dogan, Guzide; Tarhan, Serdar; Kasirga, Erhun |
Abstract |
Jun 1, 2017 |
2126 |
MEN 2A Family. |
Pekkolay, Zafer; Soylu, Hikmet; Balsak, Belma Ozlem Tural; Guven, Mehmet; Tuzcu, Alpaslan Kemal |
Brief article |
Jun 1, 2017 |
287 |
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 |
Progeroid Syndrome Patients with ZMPSTE24 Deficiency Could Benefit When Treated with Rapamycin and Dimethylsulfoxide. |
Akinci, Baris; Sankella, Shireesha; Gilpin, Christopher; Ozono, Keeichi; Garg, Abhimanyu; Agarwal, A |
Report |
Jun 1, 2017 |
316 |
Meeting the complex needs of individuals with rare genetic disorders in South Africa--lessons from tuberous sclerosis complex. |
de Vries, Petrus J. |
Report |
May 1, 2017 |
1548 |
Efficacy of brow suspension with autogenous fascia lata in simple congenital ptosis. |
|
|
Apr 30, 2017 |
2778 |
Pseudoainhum in a case of pityriasis rubra pilaris--a rare case report. |
Rajalakshmi, R.; Seethalakshmi, R.S.; Balasubramanian, N. |
Clinical report |
Apr 13, 2017 |
1508 |
Feeding obturator with presurgical nasoalveolar molding for a 2 day old neonate with cleft lip and palate. |
Kumar, Anil; E., Rajender Reddy; S., Thabitha Rani; M., Kiranmayi; Srujana, M.P. |
Report |
Apr 1, 2017 |
1628 |
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 |
Pseudoamblyopia in Congenital Cyclotropia. |
Frattolillo, Antonio; Tassi, Filippo; Di Croce, Valentina; Schiavi, Costantino |
Report |
Jan 1, 2017 |
3452 |
Analysis of Factors Associated with the Ocular Features of Congenital Cataract Children in the Shanghai Pediatric Cataract Study. |
He, Wenwen; Sun, Ting; Yang, Jin; Qin, Guoyou; Wu, Zhenyu; Zhu, Xiangjia; Lu, Yi |
Report |
Jan 1, 2017 |
5009 |
Factors Associated with Growth Retardation in Children Suffering from Sickle Cell Anemia: First Report from Central Africa. |
Kazadi, Aime Lukusa; Ngiyulu, Rene Makuala; Gini-Ehungu, Jean Lambert; Mbuyi-Muamba, Jean Marie; Alo |
Report |
Jan 1, 2017 |
4799 |
Zika Virus--Associated Micrencephaly: A Thorough Description of Neuropathologic Findings in the Fetal Central Nervous System. |
Strafela, Peter; Vizjak, Alenka; Mraz, Jerica; Mlakar, Jernej; Pizem, Joze; Tul, Natasa; Zupanc, Tat |
Report |
Jan 1, 2017 |
3852 |
The Role of Laparoscopy in the Management of a Diagnostic Dilemma: Jejunal Ectopic Pancreas Developing into Jejunojejunal Intussusception. |
Giordano, Alessio; Alemanno, Giovanni; Bergamini, Carlo; Prosperi, Paolo; Bruscino, Alessandro; Vale |
Case study |
Jan 1, 2017 |
3437 |
Study of QT interval in pediatric age group. |
Mohanty, Anwesit; Manjareeka, Magna; Mishra, Jayanti; Mishra, Soumya; Mishra, Jyotiprakash |
Report |
Jan 1, 2017 |
3161 |
Fever-induced Brugada pattern misdiagnosed as an acute myocardial infarction. |
Tadin, David; Quintal, Roberto |
Case study |
Jan 1, 2017 |
2260 |
Zika Virus-Associated Micrencephaly: A Thorough Description of Neuropathologic Findings in the Fetal Central Nervous System. |
Strafela, Peter; Vizjak, Alenka; Mraz, Jerica; Mlakar, Jernej; Pizem, Joze; Tul, Natasa; Zupanc, Tat |
|
Jan 1, 2017 |
3862 |
Kissing nevus of eyelids - Report of two cases. |
|
Report |
Dec 31, 2016 |
1191 |
New stem cell pathway discovered in research on rare genetic disease. |
|
|
Nov 7, 2016 |
435 |
South African congenital disorders data, 2006-2014. |
Lebese, V.; Aldous, C.; Malherbe, H.L. |
|
Oct 1, 2016 |
3693 |
MIDLINE CLEFT OF LOWER LIP: REVIEW AND CASE REPORTS. |
|
Case study |
Sep 30, 2016 |
2486 |
MATERNAL CONSANGUINITY: THE MOST PROBABLE CAUSATIVE FACTOR OF GENETIC EYE DISORDERS. |
|
Report |
Sep 30, 2016 |
1849 |
Short Communication - Goldenhar syndrome: a report of rare case with subtle clinical features. |
|
Case study |
Sep 30, 2016 |
927 |
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 |
Double Inferior Vena Cava Detected by CT Venography and Confirmed by Magnetic Resonance Venography: Embryogenesis and Literature Review/ Doble Vena Cava Inferior Detectada a traves de Venografia por Tomografia Computada y Confirmada con Venografia por Resonancia Magnetica: Embriogenesis y Revision de la Literatura. |
Hadidi, Maher T.; Badran, Darwish H.; Ghaida, Jamal Abu; T.shatarat, Amjad; Hadidy, Azmy M. Al-; Tar |
Clinical report |
Sep 1, 2016 |
2312 |
A scientist's journey from sickbed to Harvard. |
|
|
Aug 17, 2016 |
1656 |
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts. |
Min, Han-Yi; Qiao, Peng-Peng; Asan; Yan, Zhi-Hui; Jiang, Hui-Feng; Zhu, Ya-Ping; Du, Hui-Qian; Li, Q |
Report |
Jul 1, 2016 |
4498 |
EFFICACY OF SINGLE STAGE FOWLER STEPHEN ORCHIDOPEXY IN MANAGING IMPALPABLE UNDESCENDED TESTIS. |
|
Report |
Jun 30, 2016 |
1889 |
Genetic Defects Affecting Adrenal Development. |
Lipson, Allen; Vilain, Eric |
Report |
Jun 1, 2016 |
545 |
Genetic escape artists resist disease: 13 people found with harmful mutations but no symptoms. |
Saey, Tina Hesman |
|
May 14, 2016 |
829 |
CONGENITAL INSENSITIVITY TO PAIN WITH ANHYDROSIS. |
|
Report |
Mar 31, 2016 |
922 |
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. |
Spencer, C.; Fieggen, K.; Vorster, A.; Beighton, P. |
Report |
Mar 1, 2016 |
3497 |
Study of indications and complications of tracheostomy in pediatric age group. |
Sheth, Rakesh; Chaudhari, Chintu; Damaniya, Virag; Goyani, Bhavesh; Aiyer, R.G. |
Clinical report |
Mar 1, 2016 |
2374 |
Common Data Elements for Muscle Biopsy Reporting. |
Dastgir, Jahannaz; Rutkowski, Anne; Alvarez, Rachel; Cossette, Stacy A.; Yan, Ke; Hoffmann, Raymond |
Clinical report |
Jan 1, 2016 |
6387 |
408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing. |
De Paula, Georgette Beatriz; Barros, Beatriz Amstalden; Carpini, Stela; Tincani, Bruna Jorda; Mazzol |
Report |
Jan 1, 2016 |
6314 |
Congenital dyserythropoietic anemia: an etiopathological study. |
Ravilala, Vinod Kumar; Bapanpally, Narahari; Othuluru, Radhika Krishna; Kayla, Geetha; Anugu, Bheema |
Clinical report |
Dec 31, 2015 |
2092 |
Diseases that can be cured only by organ donations. |
Moscalu, Roxana; Smith, Anne Marie; Sharma, Harbans L. |
Report |
Dec 1, 2015 |
8442 |
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 |
Study on the prevalence of eruption status of third molars in south Indian population. |
Sivaramakrishnan, Swarna Meenakshi; Ramani, Pratibha |
Clinical report |
Oct 1, 2015 |
2317 |
Conservative management of an elite ice hockey goaltender with femoroacetabular impingement (FAI): a case report. |
MacIntyre, Kyle; Gomes, Brendan; MacKenzie, Steven; D'Angelo, Kevin |
Report |
Oct 1, 2015 |
6535 |
Cleft Lip and/or Palate can be Hereditary. |
|
|
Aug 15, 2015 |
473 |
J Wave Syndromes: A Decade of Progress. |
Li, Guo-Liang; Yang, Lin; Cui, Chang-Cong; Sun, Chao-Feng; Yan, Gan-Xin |
Report |
Jul 1, 2015 |
4969 |
Accuracy of OAE and BERA to detect the incidence of hearing loss in newborn. |
Bhatt, Jaideep; Kuchhal, Vaibhav; Saklani, Kapil; Kumar, Vikrant |
Clinical report |
Jun 18, 2015 |
2678 |
Klippel-Trenaunay Syndrome accompanied by the findings of scoliosis and spinal nerve root compression due to AVM. |
Ozkan, Yasemin; Sanal, Bekir |
Report |
Jun 1, 2015 |
2561 |
Caffeic acid improves cell viability and protects against DNA damage: involvement of reactive oxygen species and extracellular signal-regulated kinase. |
Li, Y.; Chen, L.J.; Jiang, F.; Yang, Y.; Wang, X.X.; Zhang, Z.; Li, Z.; Li, L. |
|
Jun 1, 2015 |
5180 |
Effect of consanguinity on congenital defects. |
Charmode, Sundip Hemant |
|
May 28, 2015 |
4340 |
Estimation of Thymic size in preterm and term Neonates by ultrasonography in tertiary health centre of western Maharastra. |
Kirdi, Sharanabasav; Langade, Rajkunvar; Rodagi, Sunil; Surana, Snehal; Galgali, Amit |
Clinical report |
May 7, 2015 |
2684 |
Pattern of babies with congenital malformations admitted in a tertiary newborn care unit. |
Saminathan, D.; Mythili, B.; Nazeer, Sirajuddin; Manivannan, Geetha |
|
May 4, 2015 |
1914 |
Nerve sparing ventral clitoroplasty: a new treatment for clitoromegaly. |
Sekhar, Immadi Chandra; Vanaja, G. |
|
Apr 2, 2015 |
1867 |
Mitochondrial genetic disorders. |
Brunstein, John |
|
Apr 1, 2015 |
1579 |
An Arc Incision Surgical Approach in Congenital Megaprepuce. |
Lin, Hou-Wei; Zhang, Ling; Geng, Hong-Quan; Fang, Xiao-Liang; Xu, Guo-Feng; Xu, Mao-Sheng; Cai, Wei |
Report |
Apr 1, 2015 |
1408 |
Early neonatal echocardiographic findings in an experimental rabbit model of congenital diaphragmatic hernia. |
Manso, P.H.; Figueira, R.L.; Prado, C.M.; Goncalves, F.L.; Simoes, A.L.B.; Ramos, S.G.; Sbragia, L. |
Report |
Mar 1, 2015 |
3334 |
Clinical study of brain abscess and its treatment with repeated aspirations and outcome. |
Naik, Ramachandra Rama Mohan; Rao, A. Lakshman; Venugopal, Gudla; Kiran, K.S.; Nagaraja, P. |
Clinical report |
Jan 26, 2015 |
1854 |
Practices and ethical concerns regarding preimplantation diagnosis. Who regulates preimplantation genetic diagnosis in Brazil? |
Damian, B.B.; Bonetti, T.C.S.; Horovitz, D.D.G. |
Report |
Jan 1, 2015 |
7178 |
CONGENITAL MALFORMATIONS ASSOCIATED WITH CLEFT LIP AND PALATE. |
|
Report |
Dec 31, 2014 |
2834 |
Congenital hypothyroidism: influence on linguistic and behavioral skills: study review/Hipotireoidismo congenito: influencia para as habilidades linguisticas e comportamentais: estudo de revisao. |
Anastacio-Pessan, Fernanda da Luz; Lamonica, Dionisia Aparecida Cusin |
Report |
Nov 1, 2014 |
3297 |
Magnetic resonance imaging of back pain in young population. |
Hapani, Hiral; Hapani, Jay; Anjana; Jagruti |
Clinical report |
Oct 23, 2014 |
1717 |
Test improves outlook for congenital cataracts. |
|
Brief article |
Oct 17, 2014 |
272 |
Study shows NGS for congenital cataracts can quickly, accurately detect childhood blindness diseases. |
|
|
Aug 22, 2014 |
300 |
Clinical study of various types of dacryocystits and their management outcome in a tertiary hospital. |
Babu, P. Sudhir; Soujanya, P.S.S. |
Clinical report |
Jul 7, 2014 |
3368 |
Frequecy of G6PD deficiency in neonatal hyperbilirubinemia. |
|
Report |
Jun 30, 2014 |
2265 |
Cystic hygroma in adults-a rare case report. |
Mallick, Krushna Chandra; Khatua, Rabindra Kumar; Routray, Subhalaxmi; Lenka, Anasuya |
Case study |
Mar 10, 2014 |
1241 |
Splenogonadal fusion: a very rare congenital anomaly in the differential diagnosis of a testicular mass: Splenogonadal fuzyon: testis kitlesi ayirici tanisinda nadir bir konjenital anomali. |
Bal, Kaan; Ermete, Murat; Bala, Ugur; Dincel, Cetin |
Report |
Mar 1, 2014 |
1536 |
Accessory spleen--a case report with a brief review. |
Devi, Keisam Anupama; Chinglensana, Laitonjam |
|
Feb 24, 2014 |
1723 |
Congenital defects in neutrophil dynamics. |
Keszei, Marton; Westerberg, Lisa S. |
Report |
Jan 1, 2014 |
11114 |
Coronary fistulas: a case series. |
Nada, Fennich; Fedoua, Elouali; Ghita, Saghi; Nadia, Bouzammour; Leila, Haddour; Jamila, Zarzur; Moh |
Report |
Jan 1, 2014 |
2015 |
A new look at theory of mind in children with ocular and ocular-plus congenital blindness. |
Begeer, Sander; Dik, Marjolein; voor de Wind, Marieke J.; Asbrock, Doreen; Brambring, Michael; Kef, |
Report |
Jan 1, 2014 |
5234 |
Researchers discover how to determine parental origin of a give genetic sequence. |
|
Brief article |
Dec 1, 2013 |
276 |
Genetic diseases tackled by Centre for Arab Genomic Studies in Dubai. |
|
|
Aug 22, 2013 |
738 |
Asymmetrical assimilation of atlas vertebra. |
Ravikumar, Vandana R. |
Report |
Jun 10, 2013 |
1840 |
Stem cell model for hereditary disease developed. |
|
|
Nov 5, 2012 |
629 |
Stem cell model for hereditary disease developed. |
|
|
Oct 29, 2012 |
628 |
Valsalva Ok during labor in women with congenital heart disease, study finds. |
Jancin, Bruce |
|
Aug 1, 2012 |
1059 |
Elvis Presley's 'Love Me Tender' may 'reveal clues to genetic disorder'. |
|
|
Jun 17, 2012 |
465 |
The University of Cape Town's contribution to medical genetics in Africa--from the past into the future. |
Beighton, P.; Fieggen, K.; Wonkam, A.; Ramesar, R.; Greenberg, J. |
Report |
Jun 1, 2012 |
2640 |
Intraareolar polythelia: a rare anomaly. |
|
Report |
May 31, 2012 |
1153 |
Frequency of congenital nasolacrimal duct obstruction. |
|
Report |
Mar 31, 2012 |
1632 |
Gregor Mendel and 21st century medicine. |
Murray, Michael F. |
|
Mar 15, 2012 |
701 |
Genetic blood disorders: questions you need to ask: no one is better positioned than you to look for evidence of inherited diseases--especially when you consider that many FPs care for 2, or even 3, generations of a single family. |
Starr, S. Paul |
Report |
Jan 1, 2012 |
4124 |
The level of mediators of immune response in infants with congenital cleft lip and palate. |
Inoyatov, Amrillo; Abdurakhmanov, Mamur; Sharopov, Sanjar; Azimov, Mukhamajon |
Report |
Jan 1, 2012 |
2891 |
Androgen. |
|
|
Sep 1, 2011 |
5701 |
Genetic Research Centre, Mumbai engaged in research and service on genetic disorders. |
Tamhankar, Parag; Das, Dhanjit Kumar; Vasudevan, Lakshmi; Kholkute, Sanjeev D. |
Abstract |
Aug 1, 2011 |
2159 |
Congenital fixation of the head of the stapes in three family members. |
Wetmore, Stephen J.; Gross, Andrew F.L. |
Clinical report |
Aug 1, 2011 |
2290 |
South African Indian genetic disorders. |
|
Editorial |
Jul 1, 2011 |
291 |
Genetic disorders in the Indian community of South Africa. |
Winship, W.S.; Beighton, P. |
Report |
Jul 1, 2011 |
2851 |
Genetic diseases. |
Sharrif, Moghaddasi M. |
Report |
Apr 1, 2011 |
2873 |
Genetic abnormalities discovered after creation of stem cells: will findings help promote safer stem cell-based studies and clinical trials? |
|
Clinical report |
Mar 7, 2011 |
595 |
Mother's stem cells could provide key to treating prenatal genetic diseases. |
|
|
Jan 24, 2011 |
755 |
Researchers discover specific genetic abnormalities in hESC, iPSC lines. |
|
|
Jan 17, 2011 |
480 |
Researchers discover specific genetic abnormalities in hESC, iPSC lines. |
|
|
Jan 10, 2011 |
426 |
ADHD is a genetic disorder, finds study. |
|
|
Sep 30, 2010 |
266 |
Avian vascular imaging: a review. |
Beaufrere, Hugues; Pariaut, Romain; Rodriguez, Daniel; Tully, Thomas N. |
Report |
Sep 1, 2010 |
4718 |
Recommendations for expensive treatments made for a genetic disorder called alpha-1 antitrypsin deficiency should be withdrawn because the drugs have no benefit, scientists said. |
|
|
Jul 12, 2010 |
283 |
Congenital epulis. |
Bewley, Arnaud; Bloom, Jason D.; Kherani, Safeena; Pawel, Bruce R. |
Clinical report |
Jul 1, 2010 |
768 |
Heart research gets a boost. |
|
|
Apr 23, 2010 |
166 |
Oral stereognostic ability in hypodontia patients. |
Ahmed, Bilal; Mirza, 1Kamran Masood; Butt, Amir Mehmood; Hussain, Mehmood; Yazdanie, Nazia |
Report |
Mar 31, 2010 |
2364 |
Research to curb genetic diseases. |
|
|
Mar 14, 2010 |
120 |
Dog studies may help understand human genetic disorders. |
|
|
Feb 2, 2010 |
459 |
Results of American Hospital newborn hearing screening program/Amerikan Hastanesi yenidogan isitme taramasi sonuclari. |
Kayiran, Sinan Mahir; Genc, Erkhan; Erdil, Aysen; Gurakan, Berkan A. |
Clinical report |
Dec 1, 2009 |
2214 |
Case report: presentation of lacrimo-auriculodento-digital (LADD) syndrome in a young female patient. |
McKenna, G.J.; Burke, F.M.; Mellan, K. |
Report |
Dec 1, 2009 |
2624 |
Couple in appeal for research into genetic condition. |
|
|
Oct 17, 2009 |
527 |
Reviews. |
|
Report |
Oct 1, 2009 |
504 |
Disinfection by-products and congenital anomalies: evidence still inconclusive. |
Spivey, Angela |
Report |
Oct 1, 2009 |
500 |
Chlorination disinfection by-products in drinking water and congenital anomalies: review and meta-analyses. |
Nieuwenhuijsen, Mark J.; Martinez, David; Grellier, James; Bennett, James; Best, Nicky; Iszatt, Nina |
Report |
Oct 1, 2009 |
9306 |
Mice study may better understanding of hereditary diseases that lead to blindness. |
|
|
Jul 9, 2009 |
399 |
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. |
Agarwal, M.; Sharma, R.; Panda, A.; Gupta, A. |
Clinical report |
Jul 1, 2009 |
596 |
Genes, DNA, diet, heredity, and disease. |
|
Report |
May 1, 2009 |
1549 |
New Findings Raise Questions about Process Used to Identify Experimental Drug for Rare Genetic Diseases. |
|
|
Feb 3, 2009 |
100 |
The genetics of primary congenital glaucoma. |
Armstrong, Richard A. |
Report |
Dec 12, 2008 |
3084 |
The Oct 15 issue of JAMA. |
Kessinger, Jack |
Brief article |
Dec 1, 2008 |
120 |
Should helmets be used for flattened heads? |
|
|
Nov 1, 2008 |
405 |
Disease-specific induced pluripotent stem cells. |
|
Brief article |
Nov 1, 2008 |
137 |
Sindrome de Berardinelli. reporte de un caso con evolucion fatal. |
Daher, Elizabeth; Silva, Geraldo, Jr.; Benevides, Veronica; Mendonca, Patricia; Bezerra, Helder; Sil |
|
Jun 1, 2008 |
2068 |
MPs' stem cell decision welcomed; RESEARCH: Professor has go-ahead for 'vital' work. |
|
|
May 21, 2008 |
330 |
Archbishop hits out at embryo research. |
|
|
Mar 24, 2008 |
315 |
Three-minute test to save babies' lives; HOSPITALS: 20,000 mums-to-be wanted for heart disease study. |
|
|
Feb 28, 2008 |
258 |
Genetic defects linked to body abnormalities in childhood cancer. |
Thompson, June |
Brief article |
Feb 1, 2008 |
180 |
Expanded newborn screening for genetic and metabolic disorders: modeling costs and outcomes. |
Hubbard, Heddy Bishop |
|
Nov 1, 2007 |
5862 |
Strengths, challenges, and relational processes in families of children with congenital upper limb differences. |
Murray, Christine E.; Kelley-Soderholm, Erin L.; Murray, Thomas L., Jr. |
|
Sep 1, 2007 |
9473 |
The hidden dangers of cell phone radiation. |
Kovach, Sue |
|
Aug 1, 2007 |
6856 |
Hereditary angioedema diagnostic delay can kill. |
Finn, Robert |
Brief article |
Apr 1, 2007 |
293 |
Noncompaction of the ventricular myocardium with bicuspid aortic valve/Bikuspid aort kapagi ile gorulen ventrikuler miyokardda "noncompaction". |
Cavusoglu, Yuksel; Aslan, Recep; Birdane, Alparslan; Ozbabalik, Demet; Ata, Necmi |
|
Mar 1, 2007 |
1638 |
Cash for research on genetic disease. |
|
|
Feb 12, 2007 |
313 |
Sea urchins and humans share genes. |
|
Brief article |
Feb 1, 2007 |
277 |
Congenital hepatophrenic fusion: septum transversum-liver primordium anomaly. |
Ntlhe, L.M.; Mokotedi, T.D. |
Case study |
Feb 1, 2007 |
745 |
Genetics, family systems, and multicultural influences. |
Rolland, John S. |
|
Dec 22, 2006 |
8687 |
Anorexia, bulimia prove gene related. |
|
|
Oct 1, 2006 |
309 |
Risky legacy: African DNA linked to prostate cancer. |
Harder, B. |
|
Aug 26, 2006 |
482 |
Did small hominids have a genetic defect? |
|
Brief article |
Jul 15, 2006 |
221 |
Should people with a first-degree relative who died from subarachnoid hemorrhage be screened for aneurysms? |
Jacoby, Geoff; Sams, Richard, II |
|
Jan 1, 2006 |
1122 |
Spontaneous transtemporal CSF leakage: a study of 51 cases. |
Vukas, Daniel D. |
|
Nov 1, 2005 |
2018 |
Supernumerary nostril with congenital cataract. |
Bit, Utpal Kumar |
|
Nov 1, 2005 |
1587 |
Can DNA breaks be repaired? |
|
|
Jun 1, 2005 |
392 |
Fetal genetic disorders test being developed. |
Little, Linda |
|
May 1, 2005 |
308 |
Conduct disorder risk defined by interaction of genes, environment. |
Jancin, Bruce |
|
Dec 1, 2004 |
616 |
Unraveling the genetics of bipolar disorder. |
|
|
Nov 1, 2004 |
617 |
Dad's mental health tempers ill mom's effect. |
Boschert Sherry |
|
Oct 1, 2004 |
456 |
Millennium obtains United States patent. |
|
|
Sep 1, 2004 |
98 |
Population-based carrier screening and prenatal diagnosis. |
Strom, Charles M. |
|
Aug 1, 2004 |
5200 |
Stem cell lines with genetic disorders could benefit research. |
|
|
Aug 1, 2004 |
503 |
Relatives not the best avenue for BRCA assessment. |
|
|
Jul 15, 2004 |
381 |
It's my parents' fault. |
Perlstein, Steve |
Brief Article |
Jul 1, 2004 |
122 |
RESEARCH: EXPERT GROUP HANDS DOWN RECOMMENDATIONS ON GENETIC TESTING. |
|
|
May 8, 2004 |
736 |
Ectodermal dysplasias. |
Jorgenson, Ronald J. |
|
May 1, 2004 |
1484 |
ISONG news. |
Lewis, Judy |
|
Apr 1, 2004 |
533 |
Genetic disorder traced to cilia. |
|
|
Feb 1, 2004 |
407 |
Nutrition issues associated with spinal muscular atrophy. (Review). |
Leighton, Sarah |
|
Jun 1, 2003 |
4086 |
First birth of baby selected as an embryo to be free of severe, often lethal birth defect reported in US. |
|
|
May 14, 2003 |
406 |
Discovering the genetics of autism. (Medicine & Health). |
Pericak-Vance, Margaret A. |
|
Jan 1, 2003 |
2452 |
Risk genes for ADHD. (in depth). |
|
|
Dec 1, 2002 |
255 |
Genetic risks overlap in twins. (Clinical Capsules). |
Splete, Heidi |
Brief Article |
Jun 1, 2002 |
117 |
Solving the mystery of Family X: a chance visit from a concerned patient led this doctor to a discovery that would change her life and his. |
Perry, Patrick |
|
Mar 1, 2002 |
2401 |
The mystery of family research: parents magically change from invisible to prominent. (research reflections). |
Blacher, Jan |
|
Mar 1, 2002 |
1530 |
Mitochondrial DNA-related mitochondrial dysfunction in neurodegenerative disease. (Advances in the Science of Pathology). |
Swerdlow, Russell H. |
|
Mar 1, 2002 |
9532 |
Genetic polymorphisms associated with venous and arterial thrombosis; an overview. (Advances in the Science of Pathology). |
Kottke-Marchant, Kandice |
|
Mar 1, 2002 |
8514 |
Extranodal posttransplant plasmacytic hyperplasia with subsequent posttransplant plasmacytic malignancy: six-year interval case report and review of the literature. (Case Reports). |
Dunphy, Cherie H.; Galambos, Csaba; Polski, Jacek M.; Evans, H. Lance; Gardner, Laura J.; Grosso, Le |
|
Mar 1, 2002 |
3230 |
Postmortem diagnosis of "occult" Klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis. (Case Reports). |
Matsuoka, Kentaro; Orikasa, Hideki; Eyden, Brian; Yamazaki, Kazuto |
|
Mar 1, 2002 |
1495 |
Chromosome study homes in on Alzheimer's disease. (Suspicious DNA). |
Harder, B. |
Brief Article |
Feb 23, 2002 |
561 |
The persistent problem of cystic fibrosis: why are people with this disease plagued by lung infections? |
Christensen, Damaris |
|
Jan 26, 2002 |
1945 |
Catchin' a WAVE in the search for new hypochondroplasia mutations. |
Lux, Fordyce G., III; Bellus, Gary A. |
Brief Article |
Jan 1, 2002 |
153 |
Mutation analysis of the Tuberous Sclerosis complex two gene in patients with autism. |
Wright, Curtis; Ellis, Jane |
Brief Article |
Jan 1, 2002 |
222 |
Progress in Bipolar Genetics slow, but promising. (Multiple Genes Involved). |
Sherman, Carl |
|
Dec 1, 2001 |
597 |
European CVD Risk Charts Dwarf Framingham Tables. (Data Focus on Cardiovascular Deaths). |
Zoler, Mitchel L. |
|
Dec 1, 2001 |
362 |
Fragile X protein reveals its RNA partners. |
Travis, J. |
Brief Article |
Nov 24, 2001 |
613 |
Pancreatic cancer--family ties: through family studies, scientists have been able to pinpoint where in the genetic makeup--sometimes down to the specific gene and its location on a specific chromosome--the inherited problem originates. |
Perry, Patrick |
|
Nov 1, 2001 |
4718 |
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. |
Corsi, Alessandro; Riminucci, Mara; Fisher, Larry W.; Bianco, Paolo |
|
Oct 1, 2001 |
1918 |
Surveying the genetic roots of cancer. |
|
|
Oct 1, 2001 |
196 |
Hunt for an elusive gene. |
Forstall, Joanne; Forstall, Rob; Cannataro, Jennifer |
|
Oct 1, 2001 |
1649 |
Hereditary hemochromatosis since discovery of the HFE gene. |
Lyon, Elaine; Frank, Elizabeth L. |
|
Jul 1, 2001 |
6645 |
Two genes tied to common birth defect. |
Netting, J. |
Brief Article |
Mar 10, 2001 |
551 |
Hereditary Cancer Syndromes. |
Frank, Thomas S. |
|
Jan 1, 2001 |
5533 |
Gene implicated in development of autism. |
Bower, B. |
Brief Article |
Dec 16, 2000 |
463 |
Cytogenetic Profile of a Thymoma. |
Mirza, Imran; Kazimi, Syed Nadeem; Ligi, Richard; Burns, Jacqueline; Braza, Frank |
|
Nov 1, 2000 |
1520 |
Teams implicate new gene in prostate cancer. |
Travis, J. |
Brief Article |
Oct 7, 2000 |
633 |
Gene causes body-fat disorder. |
D.C. |
Brief Article |
Jul 15, 2000 |
212 |
Genes to Grow On. |
BOWER, BRUCE |
|
Feb 26, 2000 |
1973 |
DNA furnishes tips to mental retardation. |
Bower, B. |
Brief Article |
Nov 20, 1999 |
391 |
Faulty control gene underlies retardation. |
Baker, O. |
Brief Article |
Oct 2, 1999 |
629 |
Gene Sequencing: The End of the Beginning. |
Karet, Gail; Boguslavsky, Julia |
|
Aug 1, 1999 |
5294 |
Genetic Testing: Policy Implications for Individuals and Their Families. |
JOHNSON, ANN M.; WILKINSON, DEBORAH SCHILD; TAYLOR-BROWN, SUSAN |
|
Mar 22, 1999 |
6651 |
Genetic Medicine and the Conflict of Moral Principles. |
GREEN, RONALD M. |
|
Mar 22, 1999 |
5795 |
Moral Direction in Genetic Counseling: Prenatal Testing and Huntington's Disease. |
STONE, HOWARD W.; MILES, REBEKAH |
|
Mar 22, 1999 |
6592 |
Genetics and Infertility: Psychosocial Issues in Reproductive Counseling. |
BURNS, LINDA HAMMER |
|
Mar 22, 1999 |
12810 |
Families and Genetic Fate: A Millennial Challenge. |
ROLLAND, JOHN S. |
|
Mar 22, 1999 |
5258 |
Insulin-resistance gene defect identified. |
Seppa, Nathan |
Brief Article |
Jan 16, 1999 |
526 |
DNA links reported for schizophrenia. |
Bower, Bruce |
Brief Article |
Sep 5, 1998 |
436 |
Genes of silence: scientists track down a slew of mutated genes that cause deafness. |
Travis, John |
Cover Story |
Jan 17, 1998 |
2641 |
The premature ageing syndromes: insights into the ageing process. |
Dyer, Christopher A.E.; Sinclair, Alan J. |
|
Jan 1, 1998 |
4800 |
Let's repeat: mutation gums up brain cells. |
Travis, John |
Brief Article |
Dec 20, 1997 |
489 |
Power failure: what happens when muscle cells run out of fuel. |
Fackelmann, Kathleen |
|
Sep 27, 1997 |
1645 |
Repeating DNA surprises once again. |
|
Brief Article |
Mar 16, 1996 |
366 |
Death trap lands an Alzheimer's gene. |
|
Brief Article |
Feb 10, 1996 |
147 |
Genome Research: Implications for Children. |
Williams, Janet K.; Lessick, Mira |
|
Jan 1, 1996 |
6732 |
MS families: it's genes, not a virus. |
Travis, John |
|
Sep 16, 1995 |
628 |
Bedwetting: don't blame the kids. |
Brown, Edwin W. |
|
Aug 1, 1995 |
402 |
When CAG spells trouble: DNA repeats may turn good proteins into bad. |
Travis, John |
|
Jun 10, 1995 |
2152 |
Megagene unmasked: huge gene leads to many tumors in the kidneys. |
Fackelmann, Kathleen |
|
May 27, 1995 |
1430 |
Clines for hybrid dysfunction in a grasshopper hybrid zone. |
Virdee, Sonia R.; Hewitt, Godfrey M. |
|
Apr 1, 1994 |
7242 |
Closing in on the Lou Gehrig's disease gene. |
Ezzell, Carol |
|
Jan 2, 1993 |
621 |
Clues to the sex chromosome gender gap. |
Ezzell, Carol |
|
Nov 14, 1992 |
499 |
Genes shed light on common blindness cause. |
Ezzell, Carol |
|
Jul 18, 1992 |
491 |
Cancer gene may be relatively common. |
Ezzell, Carol |
|
May 16, 1992 |
789 |
Gene flaw found in uncommon diabetes. |
|
Brief Article |
May 2, 1992 |
237 |
Hearing gene; sounding out the heredity of deafness. |
Ezzell, Carol |
Cover Story |
May 2, 1992 |
1166 |
Defect in cystic fibrosis protein found. |
|
Brief Article |
Apr 4, 1992 |
260 |
Sheep chimera makes human blood cells. |
Ezzell, Carol |
|
Mar 21, 1992 |
527 |
Gene mapped for inherited hearing loss. |
|
|
Oct 19, 1991 |
238 |
Gene defect tied to Alzheimer's cases. |
Weiss, Rick |
|
Feb 23, 1991 |
398 |
Genetic propensity to common cancers found. |
Weiss, Rick |
|
Dec 1, 1990 |
502 |
The puzzle takes shape: a key to the cause of osteoarthritis. |
Dunkin, Mary Anne |
|
Nov 1, 1990 |
1322 |
First gene-hypertension link found. |
Weiss, Rick |
|
Sep 8, 1990 |
812 |
Geneticists to arthritics: a gene's the rub. |
Weiss, Rick |
|
Sep 8, 1990 |
328 |
Triple Tourette's. |
|
|
Feb 24, 1990 |
218 |
Genetic therapy for hereditary emphysema. |
|
|
Feb 1, 1990 |
414 |
Breaking the sickle cycle: potential treatments emerge for sickle cell anemia. |
Loupe, Diane E. |
|
Dec 2, 1989 |
2151 |
Prader lacks fader; Angelman misses mom? |
Weiss, R. |
|
Nov 18, 1989 |
389 |
Exposing lung cancer as a genetic disease. |
Edwards, D.D. |
|
Jun 4, 1988 |
562 |