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浏览/检索结果: 共8条，第1-8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 Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals 期刊论文 2019, 卷号: 15, 期号: 4 作者:  Zhao, Boxun;  Wu, Qixi;  Ye, Adam Yongxin;  Guo, Jing;  Zheng, Xianing 收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03 AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder 期刊论文 2018 作者:  Yang, Changhong;  Li, Jiarui;  Wu, Qixi;  Yang, Xiaoxu;  Huang, August Yue 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03 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   MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples 期刊论文 NUCLEIC ACIDS RESEARCH, 2017 Huang, August Yue; Zhang, Zheng; Ye, Adam Yongxin; Dou, Yanmei; Yan, Linlin; Yang, Xiaoxu; Zhang, Yuehua; Wei, Liping 收藏  |  浏览/下载：6/0  |  提交时间：2017/12/03 MONOZYGOTIC TWINS DISCORDANT  SOMATIC POINT MUTATIONS  HUMAN CANCER GENOMES  DE-NOVO MUTATIONS  WHOLE-GENOME  COPY NUMBER  CLONAL HEMATOPOIESIS  HUMAN TISSUES  VARIANT  IDENTIFICATION   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   Identification of EFHD1 as a novel Ca2+ sensor for mitoflash activation 期刊论文 CELL CALCIUM, 2016 Hou, Tingting; Jian, Chongshu; Xu, Jiejia; Huang, August Yue; Xi, Jianzhong; Hu, Keping; Wei, Liping; Cheng, Heping; Wang, Xianhua 收藏  |  浏览/下载：12/0  |  提交时间：2017/12/03 Mitochondria  Mitochondrial flash (mitoflash)  Ca2+-Binding proteins  Mitochondrial Ca2+ signaling  EFHD1  CA-2&  MITOCHONDRIAL CALCIUM UNIPORTER  WOLF-HIRSCHHORN-SYNDROME  SUPEROXIDE FLASHES  PERMEABILITY TRANSITION  INDIVIDUAL MITOCHONDRIA  SKELETAL-MUSCLE  CANDIDATE GENE  EF-HAND  PROTEIN  -INDUCED MEMBRANE TRANSITION   Identification of EFHD1 as a novel Ca2+ sensor for mitoflash activation 期刊论文 2016, 卷号: 59, 期号: 5, 页码: 262-270 作者:  Hou, Tingting;  Jian, Chongshu;  Xu, Jiejia;  Huang, August Yue;  Xi, Jianzhong 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04 Mitochondria  Mitochondrial flash (mitoflash)  Ca2+-Binding proteins  Mitochondrial Ca2+ signaling  EFHD1   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