Your browser doesn't support javascript.
loading
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu, R; Dempsey, J C; Phelps, I G; O'Roak, B J; Knutzen, D M; Rue, T C; Ishak, G E; Isabella, C R; Gorden, N; Adkins, J; Boyle, E A; de Lacy, N; O'Day, D; Alswaid, A; Ramadevi A, Radha; Lingappa, L; Lourenço, C; Martorell, L; Garcia-Cazorla, À; Ozyürek, H; Haliloglu, G; Tuysuz, B; Topçu, M; Chance, P; Parisi, M A; Glass, I A; Shendure, J; Doherty, D.
Afiliação
  • Bachmann-Gagescu R; Institute for Molecular Life Sciences and Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Dempsey JC; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Phelps IG; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • O'Roak BJ; Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.
  • Knutzen DM; Department of Oncology, Franciscan Health System, Tacoma, Washington, USA.
  • Rue TC; Department of Biostatistics, University of Washington, Seattle, Washington, USA.
  • Ishak GE; Department of Radiology, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA.
  • Isabella CR; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Gorden N; Department of Internal Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Adkins J; Division of Integrated Cancer Genomics, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Boyle EA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • de Lacy N; Department of Psychiatry, University of Washington, Seattle, Washington, USA.
  • O'Day D; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Alswaid A; Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Ramadevi A R; Rainbow Children's Hospital, Hyderabad, India.
  • Lingappa L; Department of Child Neurology, Rainbow Children Hospital, Hyderabad, India.
  • Lourenço C; Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
  • Martorell L; Department of Genetica Molecular, Hospital Sant Joan de Deu, Barcelona, Spain.
  • Garcia-Cazorla À; Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu and CIBERER, ISCIII, Barcelona, Spain.
  • Ozyürek H; Department of Pediatric Neurology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
  • Haliloglu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Tuysuz B; Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
  • Topçu M; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Chance P; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Parisi MA; National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.
  • Glass IA; Department of Pediatrics, University of Washington, Seattle, Washington, USA Seattle Children's Research Institute, Seattle, Washington, USA.
  • Shendure J; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, USA Seattle Children's Research Institute, Seattle, Washington, USA.
J Med Genet ; 52(8): 514-22, 2015 Aug.
Article em En | MEDLINE | ID: mdl-26092869
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retina / Cerebelo / Heterogeneidade Genética Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retina / Cerebelo / Heterogeneidade Genética Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article