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浏览/检索结果: 共5条，第1-5条 帮助 限定条件 发表日期：2017    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 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   Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation 期刊论文 BMC MEDICAL GENETICS, 2017 Zhang, Qingping; Wang, Jiaping; Li, Jiarui; Bao, Xinhua; Zhao, Ying; Zhang, Xiaoying; Wei, Liping; Wu, Xiru 收藏  |  浏览/下载：7/0  |  提交时间：2017/12/03 FOXG1  RTT  RTT-like MR  Epilepsy  Hypoplasia of corpus callosum  VARIANT  MOSAICISM  DISORDER  CRITERIA  EPILEPSY  MECP2   SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures 期刊论文 BMC MEDICAL GENETICS, 2017 Wang, Jiaping; Gao, Hua; Bao, Xinhua; Zhang, Qingping; Li, Jiarui; Wei, Liping; Wu, Xiru; Chen, Yan; Yu, Shujie 收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03 SCN8A  Epileptic encephalopathy  Family cases  DE-NOVO MUTATIONS  SODIUM-CHANNEL  PHENOTYPIC SPECTRUM  CLINICAL SPECTRUM  SCN2A MUTATIONS  RECURRENT  NA(V)1.6  CHILDREN   Familial cases and male cases with MECP2 mutations 期刊论文 AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2017 Zhang, Qingping; Zhao, Ying; Bao, Xinhua; Luo, Jinjun; Zhang, Xiaoying; Li, Jiarui; Wei, Liping; Wu, Xiru 收藏  |  浏览/下载：10/0  |  提交时间：2017/12/03 clinical manifestations  pathogenic gene spectrum  phenotypic heterogeneity  Rett syndrome  X-linked mental retardation  LINKED MENTAL-RETARDATION  RETT-SYNDROME  HOT-SPOT  PHENOTYPE  GENE  ENCEPHALOPATHY  INACTIVATION  METHYLATION  DYSFUNCTION  SPASTICITY   Tellurium-Impregnated Porous Cobalt-Doped Carbon Polyhedra as Superior Cathodes for Lithium-Tellurium Batteries 期刊论文 ACS NANO, 2017 He, Jiarui; Lv, Weiqiang; Chen, Yuanfu; Wen, Kechun; Xu, Chen; Zhang, Wanli; Li, Yanrong; Qin, Wu; He, Weidong 收藏  |  浏览/下载：6/0  |  提交时间：2017/12/03 tellurium  metal-organic frameworks  cathode  in-operando Raman spectroscopy  lithium-tellurium battery  LI-TE BATTERIES  SULFUR BATTERIES  ION BATTERIES  PERFORMANCE  GRAPHENE  NANOSHEETS  NANOWIRES  ANODE