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浏览/检索结果: 共5条，第1-5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   Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations 期刊论文 2017, 卷号: 38, 期号: 8, 页码: 1002-1013 作者:  Dou, Yanmei;  Yang, Xiaoxu;  Li, Ziyi;  Wang, Sheng;  Zhang, Zheng 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04 autism spectrum disorder  autistic traits  parental mosaicism  single-nucleotide mosaicism   Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome 期刊论文 HUMAN MUTATION, 2015 Xu, Xiaojing; Yang, Xiaoxu; Wu, Qixi; Liu, Aijie; Yang, Xiaoling; Ye, Adam Yongxin; Huang, August Yue; Li, Jiarui; Wang, Meng; Yu, Zhe; Wang, Sheng; Zhang, Zhichao; Wu, Xiru; Wei, Liping; Zhang, Yuehua 收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03 de novo  mosaic  Dravet syndrome  SCN1A  next-generation sequencing  somatic mutation  SEVERE MYOCLONIC EPILEPSY  AUTISM SPECTRUM DISORDERS  HUMAN GENETIC-DISEASE  SOMATIC MOSAICISM  MISSENSE MUTATION  FEBRILE SEIZURES  POINT MUTATIONS  DENOVO MUTATION  MARFAN-SYNDROME  ALPORT-SYNDROME   APPROXIMATELY 10% OF "DE NOVO" SCN1AMUTATIONS CAUSING DRAVET SYNDROME ARE INHERITED FROM UNDETECTED PARENTAL MOSAICISM 期刊论文 EPILEPSIA, 2015 Zhang, Y-H.; Xu, X.; Yang, X.; Wu, Q.; Wu, X.; Wei, L. 收藏  |  浏览/下载：4/0  |  提交时间：2017/12/03 APPROXIMATELY 10% OF "DE NOVO" SCN1AMUTATIONS CAUSING DRAVET SYNDROME ARE INHERITED FROM UNDETECTED PARENTAL MOSAICISM 其他 2015-01-01 Zhang, Y-H.; Xu, X.; Yang, X.; Wu, Q.; Wu, X.; Wei, L. 收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03