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浏览/检索结果: 共5条，第1-5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 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   The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B 期刊论文 2017, 卷号: 26, 期号: 13, 页码: 1003-1011 作者:  Lyu Cuicui;  Shen Jun;  Zhang Jianping;  Xue Feng;  Liu Xiaofan 收藏  |  浏览/下载：15/0  |  提交时间：2020/01/04 hemophilia B  X chromosome inactivation  induced pluripotent stem cells  XIST noncoding RNA  high-throughput nucleotide sequencing   Genetic Evaluation of Copy Number Variations, Loss of Heterozygosity, and Single-Nucleotide Variant Levels in Human Embryonic Stem Cells with or Without Skewed X Chromosome Inactivation 期刊论文 Stem Cells and Development, 2015, 卷号: 24, 期号: 15 作者:  Liu, Weiqiang/56463214600[0];  Li, Jieliang/56685280700[1];  Wang, Jian/56732576500[2];  He, Wenyin/55872839200[3];  Va, Lip/56732944900[4] 收藏  |  浏览/下载：10/0  |  提交时间：2019/12/19 Association of skewed X chromosome inactivation and idiopathic recurrent spontaneous abortion: a systematic review and meta-analysis 期刊论文 REPRODUCTIVE BIOMEDICINE ONLINE, 2015, 卷号: 31, 期号: 2 作者:  Sui, Yilun;  Chen, Qianqian;  Sun, Xiaoxi 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19 chromosomal aneuploidy  idiopathic recurrent miscarriage  skewed X chromosome inactivation  X-linked mutations   Skewed X-chromosome inactivation in patients with esophageal carcinoma 期刊论文 2013, 卷号: 8 作者:  Li, Gang;  Jin, Tianbo;  Liang, Hongjuan;  Tu, Yanyang;  Zhang, Wei 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13 Skewed X-chromosome inactivation  Androgen receptor gene  Carcinoma  Esophagus  Cancer predisposition