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

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

广告
第一作者: Lina,Liang
第一单位: Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.
作者单位: Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China. [1] Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.;Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.;Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France. [2] Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA 23507, USA. [3] Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France. [4] Neuropédiatrie, Centre de Référence des Epilepsies Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg 67098, France. [5] Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. [6] Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School, Boston, MA 02115, USA.;The Broad Institute of Harvard and MIT, Boston, MA 02115, USA. [7] Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School, Boston, MA 02115, USA. [8] Institut de Génétique Médicale d'Alsace, Laboratoires de Diagnostic Génétique, Unité de Génétique Moléculaire, Nouvel Hôpital Civil, Strasbourg 67000, Franc. [9] Pediatric Radiologist, Département de Radiologie et Imagerie Diagnostique et Thérapeutique, CHU, Dijon 21079, France. [10] Department of Pediatrics and Neurology, University of Alabama at Birmingham, Birmingham, AL 35233, USA. [11] Clinical Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. [12] Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Department of Cardiovascular Medicine, Cleveland Clinic, Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH 44195, USA. [13] Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015, The Netherlands. [14] Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France. [15] Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.;Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Department of Cardiovascular Medicine, Cleveland Clinic, Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH 44195, USA.;Department of Genetics and Genome Science, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA. [16]
DOI 10.1093/hmg/ddz117
PMID 31152168
发布时间 2020-09-01
提交
  • 浏览2
Human molecular 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