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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:28/0  |  提交时间:2020/01/03
A global reference for human genetic variation 期刊论文
2015, 卷号: 526, 期号: 7571, 页码: 68-+
作者:  Altshuler, David M.;  Durbin, Richard M.;  Abecasis, Goncalo R.;  Bentley, David R.;  Chakravarti, Aravinda
收藏  |  浏览/下载:57/0  |  提交时间:2020/01/13
TCF7L2 variation and proliferative diabetic retinopathy. 期刊论文
Diabetes, 2013, 卷号: 62, 期号: 7, 页码: 2613-2617
作者:  Luo, Jing;  Zhao, Ling;  Chen, Aaron Yun;  Zhang, Xiaohui;  Zhu, Jin
收藏  |  浏览/下载:9/0  |  提交时间:2019/12/03
A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010 期刊论文
LANCET, 2012, 卷号: 380, 期号: 9859
作者:  Lim, Stephen S.;  Vos, Theo;  Flaxman, Abraham D.;  Danaei, Goodarz;  Shibuya, Kenji
收藏  |  浏览/下载:6/0  |  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:31/0  |  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:13/0  |  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
An integrated map of genetic variation from 1,092 human genomes 期刊论文
2012, 卷号: 491, 期号: 7422, 页码: 56-65
作者:  Altshuler, David M.;  Durbin, Richard M.;  Abecasis, Goncalo R.;  Bentley, David R.;  Chakravarti, Aravinda
收藏  |  浏览/下载:56/0  |  提交时间:2020/01/13
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:21/0  |  提交时间:2019/12/19


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