医学文献 >>
  • 检索发现
  • 增强检索
知识库 >>
  • 临床诊疗知识库
  • 中医药知识库
评价分析 >>
  • 机构
  • 作者
默认
×
热搜词:
换一批
论文 期刊
取消
高级检索

检索历史 清除

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

广告
第一作者: Slavé,Petrovski
第一单位: Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050, Australia. Electronic address: slavep@unimelb.edu.au.
作者单位: Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050, Australia. Electronic address: slavep@unimelb.edu.au. [1] Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France. [2] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA. [3] Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA. [4] Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA. [5] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. [6] Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA. [7] Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA. [8] Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA. [9] School of Women's and Children's Health, University of New South Wales, Kensington, NSW 2052, Australia. [10] Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; Priority Research Centre GrowUpWell, University of Newcastle, Callaghan, NSW 2308, Australia. [11] Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia. [12] Department of Neurosciences, Royal Children's Hospital, Herston School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia. [13] Service de Stomatologie, Centre Hospitalier Universitaire Nantes, Nantes 44093, France. [14] Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA. [15] Division of Genetics, Department of Pediatrics, Albany Medical Center, Albany, NY 12208, USA. [16] Phoenix Children's Hospital and Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85724, USA. [17] Cook Children's Physician Network, Fort Worth, TX 76102, USA. [18] Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA. [19] Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia; Florey Institute for Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3050, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, VIC 3050, Australia. [20] Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA. Electronic address: dg2875@cumc.columbia.edu. [21]
DOI 10.1016/j.ajhg.2016.03.011
PMID 27108799
发布时间 2020-08-24
提交
  • 浏览24
American journal of human genetics

相似文献

  • 中文期刊
  • 外文期刊
  • 学位论文
  • 会议论文

加载中!

加载中!

加载中!

加载中!

法律状态公告日 法律状态 法律状态信息

特别提示:本网站仅提供医学学术资源服务,不销售任何药品和器械,有关药品和器械的销售信息,请查阅其他网站。

  • 客服热线:4000-115-888 转3 (周一至周五:8:00至17:00)

  • |
  • 客服邮箱:yiyao@wanfangdata.com.cn

  • 违法和不良信息举报电话:4000-115-888,举报邮箱:problem@wanfangdata.com.cn,举报专区

官方微信
万方医学小程序
new医文AI 翻译 充值 订阅 收藏 移动端

官方微信

万方医学小程序

使用
帮助
Alternate Text
调查问卷