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Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Strongin, Anna; Heller, Theo; Doherty, Dan; Glass, Ian A; Parisi, Melissa A; Bryant, Joy; Choyke, Peter; Turkbey, Baris; Daryanani, Kailash; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Malicdan, May C; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral.
Afiliação
  • Strongin A; Digestive Diseases Branch.
  • Heller T; Translational Hepatology Section, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD.
  • Doherty D; Department of Pediatrics, University of Washington.
  • Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.
  • Parisi MA; Department of Pediatrics, University of Washington.
  • Bryant J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.
  • Choyke P; Eunice Kennedy Shriver National Institute of Child Health and Human Development.
  • Turkbey B; Medical Genetics Branch, National Human Genome Research Institute.
  • Daryanani K; Molecular Imaging Program, National Cancer Institute.
  • Yildirimli D; Molecular Imaging Program, National Cancer Institute.
  • Vemulapalli M; Radiology and Imaging Sciences, Clinical Center.
  • Mullikin JC; Medical Genetics Branch, National Human Genome Research Institute.
  • Malicdan MC; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
  • Vilboux T; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
  • Gahl WA; Medical Genetics Branch, National Human Genome Research Institute.
  • Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute.
J Pediatr Gastroenterol Nutr ; 66(3): 428-435, 2018 03.
Article em En | MEDLINE | ID: mdl-29112083

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Doenças Renais Císticas / Hepatopatias Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Doenças Renais Císticas / Hepatopatias Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article