作者：
Marie,Morimoto [1]
;
Helen,Waller-Evans [2]
;
Zineb,Ammous [3]
;
Xiaofei,Song [4]
;
Kevin A,Strauss [5]
;
Davut,Pehlivan [4]
;
Claudia,Gonzaga-Jauregui [6]
;
Erik G,Puffenberger [5]
;
Charles R,Holst [7]
;
Ender,Karaca [4]
;
Karlla W,Brigatti [5]
;
Emily,Maguire [2]
;
Zeynep H,Coban-Akdemir [4]
;
Akiko,Amagata [7]
;
C Christopher,Lau [1]
;
Xenia,Chepa-Lotrea [1]
;
Ellen,Macnamara [1]
;
Tulay,Tos [8]
;
Sedat,Isikay [9]
;
Michele,Nehrebecky [1]
;
John D,Overton [6]
;
Matthew,Klein [7]
;
Thomas C,Markello [1]
;
Jennifer E,Posey [4]
;
David R,Adams [10]
;
Emyr,Lloyd-Evans [2]
;
James R,Lupski [11]
;
William A,Gahl [10]
;
May Christine V,Malicdan [12]
作者单位：
National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
[1]
School of Biosciences, Cardiff University, Cardiff CF10 3AX, UK.
[2]
The Community Health Clinic, Topeka, IN 46571, USA.
[3]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[4]
Clinic for Special Children, Strasburg, PA 17579, USA.
[5]
Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
[6]
BioElectron Technology Corporation, Mountain View, CA 94043, USA.
[7]
Department of Medical Genetics, Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara 06080, Turkey.
[8]
Department of Physiotherapy and Rehabilitation, Hasan Kalyoncu University, School of Health Sciences, Gaziantep 27000, Turkey.
[9]
National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
[10]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
[11]
National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: maychristine.malicdan@nih.gov.
[12]
DOI
10.1016/j.ajhg.2018.09.014
PMID
30401460
发布时间
2024-04-03
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