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Refinado por: assunto: Mutation

Result Number	Material Type	Record Details and Options
1	Material Type: Artigo	Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing Yang, Yaping ; Muzny, Donna M ; Xia, Fan ; Niu, Zhiyv ; Person, Richard ; Ding, Yan ; Ward, Patricia ; Braxton, Alicia ; Wang, Min ; Buhay, Christian ; Veeraraghavan, Narayanan ; Hawes, Alicia ; Chiang, Theodore ; Leduc, Magalie ; Beuten, Joke ; Zhang, Jing ; He, Weimin ; Scull, Jennifer ; Willis, Alecia ; Landsverk, Megan ; Craigen, William J ; Bekheirnia, Mir Reza ; Stray-Pedersen, Asbjorg ; Liu, Pengfei ; Wen, Shu ; Alcaraz, Wendy ; Cui, Hong ; Walkiewicz, Magdalena ; Reid, Jeffrey ; Bainbridge, Matthew ; Patel, Ankita ; Boerwinkle, Eric ; Beaudet, Arthur L ; Lupski, James R ; Plon, Sharon E ; Gibbs, Richard A ; Eng, Christine M JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1870-1879 [Periódico revisado por pares] Chicago, IL: American Medical Association Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por
2	Material Type: Artigo	Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome Lalani, Seema R. ; Zhang, Jing ; Schaaf, Christian P. ; Brown, Chester W. ; Magoulas, Pilar ; Tsai, Anne Chun-Hui ; El-Gharbawy, Areeg ; Wierenga, Klaas J. ; Bartholomew, Dennis ; Fong, Chin-To ; Barbaro-Dieber, Tina ; Kukolich, Mary K. ; Burrage, Lindsay C. ; Austin, Elise ; Keller, Kory ; Pastore, Matthew ; Fernandez, Fabio ; Lotze, Timothy ; Wilfong, Angus ; Purcarin, Gabriela ; Zhu, Wenmiao ; Craigen, William J. ; McGuire, Marianne ; Jain, Mahim ; Cooney, Erin ; Azamian, Mahshid ; Bainbridge, Matthew N. ; Muzny, Donna M. ; Boerwinkle, Eric ; Person, Richard E. ; Niu, Zhiyv ; Eng, Christine M. ; Lupski, James R. ; Gibbs, Richard A. ; Beaudet, Arthur L. ; Yang, Yaping ; Wang, Meng C. ; Xia, Fan American journal of human genetics, 2014-11, Vol.95 (5), p.579-583 [Periódico revisado por pares] United States: Elsevier Inc Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por
3	Material Type: Artigo	Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci Sanders, Stephan J. ; He, Xin ; Willsey, A. Jeremy ; Ercan-Sencicek, A. Gulhan ; Samocha, Kaitlin E. ; Cicek, A. Ercument ; Murtha, Michael T. ; Bal, Vanessa H. ; Bishop, Somer L. ; Dong, Shan ; Goldberg, Arthur P. ; Jinlu, Cai ; Keaney, John F. ; Klei, Lambertus ; Mandell, Jeffrey D. ; Moreno-De-Luca, Daniel ; Poultney, Christopher S. ; Robinson, Elise B. ; Smith, Louw ; Solli-Nowlan, Tor ; Su, Mack Y. ; Teran, Nicole A. ; Walker, Michael F. ; Werling, Donna M. ; Beaudet, Arthur L. ; Cantor, Rita M. ; Fombonne, Eric ; Geschwind, Daniel H. ; Grice, Dorothy E. ; Lord, Catherine ; Lowe, Jennifer K. ; Mane, Shrikant M. ; Martin, Donna M. ; Morrow, Eric M. ; Talkowski, Michael E. ; Sutcliffe, James S. ; Walsh, Christopher A. ; Yu, Timothy W. ; Ledbetter, David H. ; Martin, Christa Lese ; Cook, Edwin H. ; Buxbaum, Joseph D. ; Daly, Mark J. ; Devlin, Bernie ; Roeder, Kathryn ; State, Matthew W. Neuron (Cambridge, Mass.), 2015-09, Vol.87 (6), p.1215-1233 [Periódico revisado por pares] United States: Elsevier Inc Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por