Your browser doesn't support javascript.
loading
The Undiagnosed Diseases Network International: Five years and more!
Taruscio, D; Baynam, G; Cederroth, H; Groft, S C; Klee, E W; Kosaki, K; Lasko, P; Melegh, B; Riess, O; Salvatore, M; Gahl, W A.
  • Taruscio D; National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy. Electronic address: domenica.taruscio@iss.it.
  • Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of WA, WA Health Department, Perth, Australia; Faculty of Health and Medical Sciences, Division of Paediatrics and Telethon Kids Institute, Perth, Australia.
  • Cederroth H; Wilhelm Foundation, Brottby, Sweden.
  • Groft SC; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
  • Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Lasko P; Department of Biology, McGill University, Montréal, Québec, Canada; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Melegh B; Department of Medical Genetics, University of Pécs, School of Medicine, Clinical Center, Pecs, Hungary.
  • Riess O; Institute of Medical Genetics and Applied Genomics, Rare Disease Center, University of Tübingen, Tübingen, Germany.
  • Salvatore M; National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy.
  • Gahl WA; NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Institute, National Institutes of Health, Bethesda, MD, USA.
Mol Genet Metab ; 129(4): 243-254, 2020 04.
Article en En | MEDLINE | ID: mdl-32033911

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Salud Global / Enfermedades Raras / Enfermedades no Diagnosticadas / Servicios de Información / Cooperación Internacional Tipo de estudio: Etiology_studies / Guideline Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Salud Global / Enfermedades Raras / Enfermedades no Diagnosticadas / Servicios de Información / Cooperación Internacional Tipo de estudio: Etiology_studies / Guideline Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article