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1Academic Journal
المؤلفون: Arboleda, Valerie A, Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A, Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P, Deignan, Joshua L, UCLA Clinical Genomics Center, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F
المصدر: American journal of human genetics. 96(3)
مصطلحات موضوعية: UCLA Clinical Genomics Center, Humans, Microcephaly, Abnormalities, Multiple, Histones, Codon, Nonsense, Pedigree, Developmental Disabilities, Acetylation, Heterozygote, Mutation, Child, Preschool, Female, Male, Histone Acetyltransferases, Exome, Human Genome, Genetics, Rare Diseases, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/80m7r988
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2Academic Journal
المؤلفون: Mirzaa, Ghayda M., Campbell, Catarina D., Solovieff, Nadia, Goold, Carleton P., Jansen, Laura A., Menon, Suchithra, Timms, Andrew E., Conti, Valerio, Biag, Jonathan D., Olds, Carissa, Boyle, Evan August, Collins, Sarah, Ishak, Gisele, Poliachik, Sandra L., Girisha, Katta M., Yeung, Kit-San, Chung, Brian Hon Yin, Rahikkala, Elisa, Gunter, Sonya A., McDaniel, Sharon S., Macmurdo, Colleen Forsyth, Bernstein, Jonathan A., Martin, Beth, Leary, Rebecca J., Mahan, Scott, Liu, Shanming, Weaver, Molly, Dorschner, Michael O., Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Shendure, Jay, Saneto, Russell P., Novotny, Edward J., Wilson, Christopher J., Sellers, William R., Morrissey, Michael P., Hevner, Robert F., Ojemann, Jeffrey G., Guerrini, Renzo, Murphy, Leon O., Winckler, Wendy, Dobyns, William B.
المصدر: JAMA Neurology ; volume 73, issue 7, page 836 ; ISSN 2168-6149