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浏览/检索结果: 共7条，第1-7条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes 期刊论文 NEUROLOGY-GENETICS, 2019, 卷号: 5, 期号: 2 作者:  Sun, Chong;  Song, Jie;  Jiang, Yanjun;  Zhao, Chongbo;  Lu, Jiahong 收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05 Insights into genetics, human biology and disease gleaned from family based genomic studies 期刊论文 2019, 卷号: 21, 期号: 4, 页码: 798-812 作者:  Posey, Jennifer E.;  O'Donnell-Luria, Anne H.;  Chong, Jessica X.;  Harel, Tamar;  Jhangiani, Shalini N. 收藏  |  浏览/下载：25/0  |  提交时间：2020/01/03 rare variant phenotypes  Mendelian conditions  Centers for Mendelian Genomics (CMG)  genetic models for disease  disease traits   Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 期刊论文 HUMAN MOLECULAR GENETICS, 2014, 卷号: 23, 期号: 10 作者:  Lionel, Anath C.;  Tammimies, Kristiina;  Vaags, Andrea K.;  Rosenfeld, Jill A.;  Ahn, Joo Wook 收藏  |  浏览/下载：22/0  |  提交时间：2019/12/19 Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus 期刊论文 AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 卷号: 92, 期号: 2 作者:  Beunders, Gea;  Voorhoeve, Els;  Golzio, Christelle;  Pardo, Luba M.;  Rosenfeld, Jill A. 收藏  |  浏览/下载：19/0  |  提交时间：2019/12/19 Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities 期刊论文 AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 卷号: 91, 期号: 6 作者:  Talkowski, Michael E.;  Maussion, Gilles;  Crapper, Liam;  Rosenfeld, Jill A.;  Blumenthal, Ian 收藏  |  浏览/下载：28/0  |  提交时间：2019/12/19 Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries 期刊论文 CELL, 2012, 卷号: 149, 期号: 3 作者:  Talkowski, Michael E.;  Rosenfeld, Jill A.;  Blumenthal, Ian;  Pillalamarri, Vamsee;  Chiang, Colby 收藏  |  浏览/下载：34/0  |  提交时间：2019/12/19 Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 期刊论文 AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 卷号: 89, 期号: 4 作者:  Talkowski, Michael E.;  Mullegama, Sureni V.;  Rosenfeld, Jill A.;  van Bon, W. M.;  Shen, Yiping 收藏  |  浏览/下载：20/0  |  提交时间：2019/12/19