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浏览/检索结果: 共2条，第1-2条 帮助 限定条件 专题：北京大学    第一署名单位    第一作者单位    通讯作者单位     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 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   Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals 期刊论文 细胞研究英文版, 2014 Huang, August Y.; Xu, Xiaojing; Ye, Adam Y.; Wu, Qixi; Yan, Linlin; Zhao, Boxun; Yang, Xiaoxu; He, Yao; Wang, Sheng; Zhang, Zheng; Gu, Bowen; Zhao, Han-Qing; Wang, Meng; Gao, Hua; Gao, Ge; Zhang, Zhichao; Yang, Xiaoling; Wu, Xiru; Zhang, Yuehua; Wei, Liping 收藏  |  浏览/下载：6/0  |  提交时间：2015/11/11 single-nucleotide mutation  postzygotic mosaicism  Dravet syndrome  next-generation sequencing  Bayesian model  DETECTABLE CLONAL MOSAICISM  SOMATIC MUTATIONS  DRAVET SYNDROME  MATERNAL MICROCHIMERISM  SENSITIVE DETECTION  HUMAN TISSUES  PIK3CA CAUSE  HUMAN BRAIN  CANCER  DISEASE