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浏览/检索结果: 共3条，第1-3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 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：9/0  |  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   Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population 期刊论文 plos one, 2013 He, Huiying; Han, Dong; Feng, Hailan; Qu, Hong; Song, Shujuan; Bai, Baojing; Zhang, Zhenting 收藏  |  浏览/下载：2/0  |  提交时间：2015/11/11 HYPOHIDROTIC ECTODERMAL DYSPLASIA  NON-SYNDROMIC HYPODONTIA  ECTODYSPLASIN-A  GENETIC-BASIS  INHERITED ANOMALIES  HAIR-FOLLICLES  KAPPA-B  IDENTIFICATION  MORPHOGENESIS  EXPRESSION   Causal Models of Clinically Significant Behaviors in Angelman, Cornelia de Lange, Prader-Willi and Smith-Magenis Syndromes 期刊论文 2013 Oliver, Chris; Adams, Dawn; Allen, Debbie; Bull, Leah; Heald, Mary; Moss, Jo; Wilde, Lucy; Woodcock, Kate 收藏  |  浏览/下载：3/0  |  提交时间：2015/11/16 SELF-INJURIOUS-BEHAVIOR  BRACHMANN-DELANGE SYNDROME  SYNDROME DEL 17P11.2  DU-CHAT-SYNDROMES  GENOTYPE-PHENOTYPE CORRELATIONS  AUTISM SPECTRUM DISORDERS  FRAGILE-X-SYNDROME  COMPULSIVE BEHAVIOR  ENVIRONMENTAL EVENTS  GENETIC SUBTYPES