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浏览/检索结果: 共8条，第1-8条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择发表日期升序发表日期降序提交时间升序提交时间降序题名升序题名降序作者升序作者降序 The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies 期刊论文 NATURE GENETICS, 2017, 卷号: 49, 期号: 1 作者:  Redin, Claire;  Brand, Harrison;  Collins, Ryan L.;  Kammin, Tammy;  Mitchell, Elyse 收藏  |  浏览/下载：21/0  |  提交时间：2019/12/05 MolecularanalysisofadeletionhotspotintheNRXN1regionrevealstheinvolvementofshortinvertedrepeatsindeletionCNVs 会议论文 作者:  Chen XL(陈晓丽);  Yiping Shen;  Feng Zhang;  Colby Chiang;  Vamsee Pillalamarri 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/19 Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs 期刊论文 AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 卷号: 92, 期号: 3 作者:  Chen, Xiaoli;  Shen, Yiping;  Zhang, Feng;  Chiang, Colby;  Pillalamarri, Vamsee 收藏  |  浏览/下载：6/0  |  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 Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity 期刊论文 ARCHIVES OF GENERAL PSYCHIATRY, 2012, 卷号: 69, 期号: 12 作者:  Ernst, Carl;  Marshall, Christian R.;  Shen, Yiping;  Metcalfe, Kay;  Rosenfeld, Jill 收藏  |  浏览/下载：12/0  |  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