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浏览/检索结果: 共8条，第1-8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 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：122/0  |  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   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   Scalable and DiI-compatible optical clearance of the mammalian brain 期刊论文 2015 Hou Bing; Zhang Dan; Zhao Shan; Wei Mengping; Yang Zaifu; Wang Shaoxia; Wang Jiarui; Zhang Xin; Liu Bing; Fan Lingzhong; Li Yang; Qiu Zilong; Zhang Chen; Jiang Tianzi 收藏  |  浏览/下载：3/0  |  提交时间：2015/11/11 3DISCO,CLARITY,CUBIC,SeeDB,Urea,optical tissue clearing,tract tracing,whole brain imaging   Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients 期刊论文 bmc medical genetics, 2014 Zhao, Ying; Zhang, Xiaoying; Bao, Xinhua; Zhang, Qingping; Zhang, Jingjing; Cao, Guangna; Zhang, Jie; Li, Jiarui; Wei, Liping; Pan, Hong; Wu, Xiru 收藏  |  浏览/下载：10/0  |  提交时间：2015/11/10 CDKL5 mutations  Early-onset epileptic encephalopathy  X chromosome inactivation  ONSET INTRACTABLE EPILEPSY  X-CHROMOSOME INACTIVATION  CDKL5 MUTATIONS  RETT-SYNDROME  INFANTILE SPASMS  MENTAL-RETARDATION  SEVERE ENCEPHALOPATHY  FEMALE-PATIENTS  BOYS  SEIZURES   Influence of alkyl length on properties of piezofluorochromic aggregation induced emission compounds derived from 9,10-bis[(N-alkylphenothiazin-3-yl)vinyl]anthracene 期刊论文 tetrahedron, 2014 Zhang, Xiqi; Ma, Zhiyong; Yang, Yang; Zhang, Xiaoyong; Chi, Zhenguo; Liu, Siwei; Xu, Jiarui; Jia, Xinru; Wei, Yen 收藏  |  浏览/下载：2/0  |  提交时间：2015/11/11 Aggregation induced emission  Reversible piezofluorochromic property  Alkyl-length dependent  Crystalline-amorphous phase transformation  Divinylanthracene derivative  Stimuli-responsive luminescent material  FLUORESCENT ORGANIC NANOPARTICLES  REVERSIBLE PIEZOCHROMIC LUMINESCENCE  CELL IMAGING APPLICATIONS  SOLID-STATE  MOLECULAR ASSEMBLIES  ENHANCED EMISSION  FACILE PREPARATION  CHAIN-LENGTH  TETRAPHENYLETHYLENE  BEHAVIOR