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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 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations 期刊论文 HUMAN MUTATION, 2017 Dou, Yanmei; Yang, Xiaoxu; Li, Ziyi; Wang, Sheng; Zhang, Zheng; Ye, Adam Yongxin; Yan, Linlin; Yang, Changhong; Wu, Qixi; Li, Jiarui; Zhao, Boxun; Huang, August Yue; Wei, Liping 收藏  |  浏览/下载：121/0  |  提交时间：2017/12/03 autism spectrum disorder  autistic traits  parental mosaicism  single-nucleotide mosaicism  DE-NOVO MUTATIONS  INTERACTION NETWORKS  SOMATIC MOSAICISM  DRAVET SYNDROME  HUMAN-DISEASE  GENETIC RISK  HUMAN BRAIN  EVOLUTION  PATTERNS  GENOME   Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci 期刊论文 NEURON, 2015 Sanders, Stephan J.; Xin He; Willsey, A. Jeremy; Ercan-Sencicek, A. Gulhan; Samocha, Kaitlin E.; Cicek, A. Ercument; Murtha, Michael T.; Bal, Vanessa H.; Bishop, Somer L.; Shan Dong; Goldberg, Arthur P.; Cai Jinlu; Keaney, John F., III; 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. 收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03 COPY-NUMBER VARIATION  DE-NOVO MUTATIONS  HIDDEN-MARKOV MODEL  SNP GENOTYPING DATA  TRUNCATING MUTATIONS  STRUCTURAL VARIATION  WILLIAMS-SYNDROME  SIMPLEX AUTISM  GENE  RARE   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