المؤلفون: Kaylee Park, Georg Seelig, Robert J. Hopkin, Steven Lisgo, Joseph G. Gleeson, Yuri A. Zarate, Charles E. Schwartz, Stephen R. Braddock, Katherine Wusik, Zachary Thomson, Deborah A. Nickerson, Charles M. Roco, Susan Sell, Jordan Zeiger, Chi V. Cheng, Matthew Hirano, Julie R. Jones, Roger L. Ladda, Gisele E. Ishak, Amy Goldstein, David B. Everman, Dan Doherty, Sarah Collins, William B. Dobyns, Lynne M. Overmann, Ian A. Glass, Alexander B. Rosenberg, Megan T. Cho, Kathleen A. Leppig, Kimberly A. Aldinger, Brian H.Y. Chung, Andrew E. Timms, Kathleen J. Millen, Fatima Abidi, Michael J. Bamshad, Cynthia J. Curry, Fowzan S. Alkuraya, A. James Barkovich, James T. Bennett, Parthiv Haldipur, Leslie G. Biesecker, Ian D. Krantz, Ghayda M. Mirzaa, Dianne Gerrelli, Barbara McGillivray, Sara S. Cathey

المصدر: The American Journal of Human Genetics. 105:606-615

مصطلحات موضوعية: Male, 0301 basic medicine, Cerebellum, PDGFRB, Bioinformatics, Article, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Pregnancy, Intellectual disability, Genetics, Humans, Medicine, Exome, Genetics (clinical), Exome sequencing, business.industry, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Etiology, Autism, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282ca27ddfdcb3de1615e0de8cf3c41d
https://doi.org/10.1016/j.ajhg.2019.07.019