Genetics in Medicine

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The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay
Genetics in Medicine - Tập 24 - Trang 2501-2515 - 2022
Margaret F. Lippincott, Wanxue Xu, Abigail A. Smith, Xinyu Miao, Agathe Lafont, Omar Shennib, Gordon J. Farley, Riwa Sabbagh, Angela Delaney, Maria Stamou, Lacey Plummer, Kathryn Salnikov, Neoklis A. Georgopoulos, Veronica Mericq, Richard Quinton, Frederic Tran Mau-Them, Sophie Nambot, Asma Hamad, Helen Brittain, Rebecca S. Tooze
Growth behavior of plexiform neurofibromas after surgery
Genetics in Medicine - Tập 15 - Trang 691-697 - 2013
Rosa Nguyen, Chadi Ibrahim, Reinhard E. Friedrich, Manfred Westphal, Martin Schuhmann, Victor-Felix Mautner
A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome
Genetics in Medicine - Tập 8 - Trang 401-408 - 2006
Julie De Backer, Bart Loeys, Dan Devos, Harry Dietz, Johan De Sutter, Anne De Paepe
Privacy practices using genetic data from cell-free DNA aneuploidy screening
Genetics in Medicine - Tập 23 - Trang 1746-1752 - 2021
Christian M. Parobek, Melissa L. Russo, Adam K. Lewkowitz
Offering aggregate results to participants in genomic research: opportunities and challenges
Genetics in Medicine - Tập 14 - Trang 490-496 - 2012
Laura M. Beskow, Wylie Burke, Stephanie M. Fullerton, Richard R. Sharp
Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases
Genetics in Medicine - Tập 21 - Trang 1049-1057 - 2019
Deborah A. Marshall, Eric I. Benchimol, Alex MacKenzie, Daniel Rodriguez Duque, Karen V. MacDonald, Taila Hartley, Heather Howley, Alison Hamilton, Meredith Gillespie, Faheem Malam, Kym M. Boycott
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Genetics in Medicine - Tập 25 - Trang 100323 - 2023
Eissa A. Faqeih, Malak Ali Alghamdi, Marwa A. Almahroos, Essa Alharby, Makki Almuntashri, Amnah M. Alshangiti, Prouteau Clément, Daniel G. Calame, Leila Qebibo, Lydie Burglen, Martine Doco-Fenzy, Mario Mastrangelo, Annalaura Torella, Filippo Manti, Vincenzo Nigro, Ziegler Alban, Ghadeer Saleh Alharbi, Jamil Amjad Hashmi, Rawya Alraddadi, Razan Alamri
The natural history of MPS I: global perspectives from the MPS I Registry
Genetics in Medicine - Tập 16 - Trang 759-765 - 2014
Michael Beck, Pamela Arn, Roberto Giugliani, Joseph Muenzer, Torayuki Okuyama, John Taylor, Shari Fallet
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene
Genetics in Medicine - Tập 4 - Trang 420-426 - 2002
Peining Li, Tim Wood, Jerry N. Thompson
The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop
Genetics in Medicine - Tập 11 - Trang 559-567 - 2009
Muin J. Khoury, Colleen M. McBride, Sheri D. Schully, John P.A. Ioannidis, W. Gregory Feero, A. Cecile J.W. Janssens, Marta Gwinn, Denise G. Simons-Morton, Jay M. Bernhardt, Michele Cargill, Stephen J. Chanock, George M. Church, Ralph J. Coates, Francis S. Collins, Robert T. Croyle, Barry R. Davis, Gregory J. Downing, Amy DuRoss, Susan Friedman, Mitchell H. Gail
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