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The adult phenotype of Schaaf-Yang syndrome.
Marbach, Felix; Elgizouli, Magdeldin; Rech, Megan; Beygo, Jasmin; Erger, Florian; Velmans, Clara; Stumpel, Constance T R M; Stegmann, Alexander P A; Beck-Wödl, Stefanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Schaaf, Christian P; Kuechler, Alma.
Afiliación
  • Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Elgizouli M; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Rech M; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Beygo J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Erger F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Velmans C; Faculty of Medicine, University of Cologne, 50931, Cologne, Germany.
  • Stumpel CTRM; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
  • Stegmann APA; Faculty of Medicine, University of Cologne, 50931, Cologne, Germany.
  • Beck-Wödl S; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
  • Gillessen-Kaesbach G; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202AZ, Maastricht, The Netherlands.
  • Horsthemke B; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202AZ, Maastricht, The Netherlands.
  • Schaaf CP; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Kuechler A; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
Orphanet J Rare Dis ; 15(1): 294, 2020 10 19.
Article en En | MEDLINE | ID: mdl-33076953
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Artrogriposis / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Artrogriposis / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Alemania