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Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
Claustres, Mireille; Kozich, Viktor; Dequeker, Els; Fowler, Brain; Hehir-Kwa, Jayne Y; Miller, Konstantin; Oosterwijk, Cor; Peterlin, Borut; van Ravenswaaij-Arts, Conny; Zimmermann, Uwe; Zuffardi, Orsetta; Hastings, Ros J; Barton, David E.
Afiliación
  • Claustres M; Molecular Genetics of Rare Disorders, University Hospital of Montpellier and INSERM U827, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France.
  • Kozich V; First Faculty of Medicine, Charles University in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic.
  • Dequeker E; Biomedical Quality Assurance Research Unit, Department of Human Genetics, University of Leuven, Leuven, Belgium.
  • Fowler B; Department of Paediatrics, Universitäts-Kinderspital beider Basel (UKBB), Basel, Switzerland.
  • Hehir-Kwa JY; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Miller K; Hannover Medical School, Institute of Human Genetics, Hannover, Germany.
  • Oosterwijk C; VSOP-National Patient Alliance for Rare and Genetic Disorders, Soest, The Netherlands.
  • Peterlin B; Division of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Center, Ljubljana, Slovenia.
  • van Ravenswaaij-Arts C; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Zimmermann U; Division 3 Health/Forensics, Deutsche Akkreditierungsstelle GmbH (DAkkS), Office Frankfurt am Main, Germany.
  • Zuffardi O; Department of Medical Genetics, University of Pavia, Pavia, Italy.
  • Hastings RJ; CEQA/UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Barton DE; National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.
Eur J Hum Genet ; 22(2): 160-70, 2014 Feb.
Article en En | MEDLINE | ID: mdl-23942201
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Revelación Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Revelación Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Francia