机译:鉴定Carey-Fineman-ziter综合征和Moebius综合征重叠特征的非本土美国家庭中的Stac3 Stac3变种
GeneDxGaithersburg Maryland;
Department of Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew York New York;
McKusick‐Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimore;
Medical Genetic UnitSARAH Network of Rehabilitation HospitalsBrasilia‐DF Brazil;
Human Genetics Unit Medical and Developmental GeneticsUniversity of Edinburgh Western General;
McKusick‐Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimore;
Department of Plastic &
Reconstructive SurgeryJohns Hopkins Hospital University School of;
Institute of Medical Genetics and Applied GenomicsUniversity of TübingenTübingen Germany;
Center for Medical Genetics and Molecular MedicineHaukeland University HospitalBergen Norway;
Department of Clinical GeneticsUniversity Medical Center University of UtrechtUtrecht The;
Department of Genetics—Hospital Robert DEBREParis France;
Dr. Angela Robles Pediatrics Private PracticeSan Sebastian Puerto Rico;
Medical Genomics and Metabolic Genetics Branch National Human Genome Research InstituteNational;
Department of NeurologyBoston Children's Hospital and Harvard Medical SchoolBoston Massachusetts;
Department of Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew York New York;
McKusick‐Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimore;
Department of PediatricsUniversity of UtahSalt Lake City Utah;
McKusick‐Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimore;
McKusick‐Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimore;
Carey‐Fineman‐Ziter syndrome; cleft palate; Native American Myopathy; Moebius syndrome; Myopathy; p.Trp284Ser variant; Puerto Rican; Qatar;
机译:鉴定Carey-Fineman-ziter综合征和Moebius综合征重叠特征的非本土美国家庭中的Stac3 Stac3变种
机译:Carey-Fineman-Ziter-综合征(CFZS)的描绘和定义:(十)个城市的故事
机译:Carey-Fineman-ziter综合征:Mymk相关的肌病模仿脑干肿瘤功能
机译:带有小型突变的家庭中病窦南邦司综合征的表型重叠
机译:Li-Fraumeni综合征家族的鉴定和表征:体内模型的分子和体外分析与开发。
机译:在非美国原住民家庭中识别出具有Carey-Fineman-Ziter综合征和Moebius综合征重叠特征的STAC3变体
机译:Carey-FineMan-Ziter综合征,具有肌肉基因和肌纤维肥大的突变