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浏览/检索结果: 共3条，第1-3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 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains 期刊论文 Nature Neuroscience, 2017, 卷号: 20, 期号: 8, 页码: 1043-1051 作者:  Geisheker, Madeleine R.;  Heymann, Gabriel;  Wang, Tianyun;  Coe, Bradley P.;  Turner, Tychele N. 收藏  |  浏览/下载：10/0  |  提交时间：2019/12/03 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders 期刊论文 The American Journal of Human Genetics, 2016, 卷号: 98, 期号: 3, 页码: 541-552 作者:  Stessman, Holly A. F.;  Willemsen, Marjolein H.*;  Fenckova, Michaela;  Penn, Osnat;  Hoischen, Alexander 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/03 The contribution of de novo coding mutations to autism spectrum disorder 期刊论文 nature, 2014 Iossifov, Ivan; O' Sanders, Stephan J.; Ronemus, Michael; Krumm, Niklas; Levy, Dan; Stessman, Holly A.; Witherspoon, Kali T.; Vives, Laura; Patterson, Karynne E.; Smith, Joshua D.; Paeper, Bryan; Nickerson, Deborah A.; Dea, Jeanselle; Dong, Shan; Gonzalez, Luis E.; Mandell, Jeffrey D.; Mane, Shrikant M.; Murtha, Michael T.; Sullivan, Catherine A.; Walker, Michael F.; Waqar, Zainulabedin; Wei, Liping; Willsey, A. Jeremy; Yamrom, Boris; Lee, Yoon-ha; Grabowska, Ewa; Dalkic, Ertugrul; Wang, Zihua; Marks, Steven; Andrews, Pet; Roak, Brian J. 收藏  |  浏览/下载：6/0  |  提交时间：2015/11/13 COPY-NUMBER VARIATION  INTELLECTUAL DISABILITY  STRUCTURAL VARIATION  INHERITED DISEASE  PATERNAL AGE  SCHIZOPHRENIA  NETWORK  RISK  EVOLUTION  RESOURCE