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浏览/检索结果: 共6条，第1-6条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择发表日期升序发表日期降序作者升序作者降序提交时间升序提交时间降序题名升序题名降序 A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family 期刊论文 European Journal of Medical Genetics, 2019 作者:  Lijian Xie;  Cuilan Hou;  Xunwei Jiang;  Jian Zhao;  Yun Li 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/17 Trans-2,  3-Enoyl-CoA  reductase-like  (Tecrl)  Catecholaminergic  polymorphic  ventricular  tachycardia  (CPVT)  Sudden  cardiac  death  (SCD)  Whole-exome  sequencing  (WES)   A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family. 期刊论文 European journal of medical genetics, 2019 作者:  Lijian Xie;  Cuilan Hou;  Xunwei Jiang;  Jian Zhao;  Yun Li 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/17 Catecholaminergic polymorphic ventricular tachycardia (CPVT)  Sudden cardiac death (SCD)  Trans-2, 3-Enoyl-CoA reductase-like (Tecrl)  Whole-exome sequencing (WES)   Whole-Exome Sequencing Analysis of One Patient with Synchronous AAH, MIA and IA 会议论文 作者:  Ma, K.;  Xu, Y.;  Cai, Y.;  Wang, X. 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05 heterogenous  Pathology  lung adenocarcinoma  whole-exome sequencing (WES)   A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing 期刊论文 MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 卷号: 6, 期号: 5, 页码: 739-748 作者:  Yang, Junli;  Wang, Qiong;  Zhuo, Qingcui;  Tian, Huiling;  Li, Wen 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 glycosylphosphatidylinositol  GPI  IGD  inherited GPI deficiency  MCAHS2  multiple congenital anomalies hypotonia-seizures syndrome 2  phosphatidylinositol glycan anchor biosynthesis class A  PIGA  PIGA  deficiency  splicing defect  WES  whole-exome sequencing   Molecular Genetics of Premature Ovarian Insufficiency 期刊论文 TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2018, 卷号: 29, 期号: 11, 页码: 795-807 作者:  Jiao, Xue;  Ke, Hanni;  Qin, Yingying;  Chen, Zi-Jiang 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/11 candidate gene  menopause  miRNA  next generation sequencing (NGS)  Premature ovarian insufficiency (POI)  whole exome sequencing (WES)   Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree 期刊论文 2015, 卷号: 1, 期号: 2, 页码: 66-70 作者:  Wang Tao;  Xu Chen-Chen;  Zhou Xi-Ping;  Lee Jonathan J;  Shen Jun 收藏  |  浏览/下载：7/0  |  提交时间：2020/01/04 CS  Cockayne syndrome  ERCC5  ERCC5  Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene  Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene  NER  Nucleotide excision repair  UV  Ultraviolet  WES  Whole exome sequencing  XP  Xeroderma pigmentosum  XP-G  Xeroderma pigmentosum complementation group G  nucleotide excision repair  whole exome sequencing  xeroderma pigmentosum complementation group G