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Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.
Poretti, Andrea; Snow, Joseph; Summers, Angela C; Tekes, Aylin; Huisman, Thierry A G M; Aygun, Nafi; Carson, Kathryn A; Doherty, Dan; Parisi, Melissa A; Toro, Camilo; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Cullinane, Andrew R; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral.
  • Poretti A; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Snow J; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Summers AC; Intramural Research Program, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Tekes A; Intramural Research Program, Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Huisman TAGM; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Aygun N; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Carson KA; Division of Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Doherty D; Department of Epidemiology, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA.
  • Parisi MA; Division of General Internal Medicine, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Toro C; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Yildirimli D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Vemulapalli M; Intellectual and Developmental Disabilities Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.
  • Mullikin JC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Maryland, USA.
  • Cullinane AR; NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Vilboux T; NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
J Med Genet ; 54(8): 521-529, 2017 08.
Article en En | MEDLINE | ID: mdl-28087721
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retina / Anomalías Múltiples / Imagen por Resonancia Magnética / Cerebelo / Anomalías del Ojo / Cognición / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retina / Anomalías Múltiples / Imagen por Resonancia Magnética / Cerebelo / Anomalías del Ojo / Cognición / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article