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Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

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第一作者: Angela C,Summers
第一单位: Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.;Department of Psychology, Fordham University, Bronx, New York.
作者单位: Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.;Department of Psychology, Fordham University, Bronx, New York. [1] Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland. [2] NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland. [3] Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, Maryland.;Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland. [4] Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland. [5] Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland. [6] Electroencephalography Section, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland. [7] Department of Pediatrics, University of Washington, Seattle, Washington.;Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington. [8] NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. [9] Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.;Inova Translational Medicine Institute, Falls Church, Virginia. [10] NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.;Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.;Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. [11] Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.;Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.;Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland. [12]
DOI 10.1002/ajmg.a.38272
PMID 28497568
发布时间 2025-05-30
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American journal of medical genetics. Part A

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