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Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Summers, Angela C; Snow, Joseph; Wiggs, Edythe; Liu, Alexander G; Toro, Camilo; Poretti, Andrea; Zein, Wadih M; Brooks, Brian P; Parisi, Melissa A; Inati, Sara; Doherty, Dan; Vemulapalli, Meghana; Mullikin, Jim C; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral.
Afiliação
  • Summers AC; Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
  • Snow J; Department of Psychology, Fordham University, Bronx, New York.
  • Wiggs E; Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
  • Liu AG; Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
  • Toro C; Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
  • Poretti A; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Zein WM; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, Maryland.
  • Brooks BP; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
  • Parisi MA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Inati S; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Doherty D; Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
  • Vemulapalli M; Electroencephalography Section, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland.
  • Mullikin JC; Department of Pediatrics, University of Washington, Seattle, Washington.
  • Vilboux T; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Gahl WA; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Gunay-Aygun M; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Am J Med Genet A ; 173(7): 1796-1812, 2017 Jul.
Article em En | MEDLINE | ID: mdl-28497568
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Qualitative_research Idioma: En Revista: Am J Med Genet A Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Qualitative_research Idioma: En Revista: Am J Med Genet A Ano de publicação: 2017 Tipo de documento: Article