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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi, Arash; Caspar, Sylvan M; Meienberg, Janine; Rohrbach, Marianne; Steinmann, Beat; Matyas, Gabor.
Afiliação
  • Najafi A; Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Caspar SM; Cantonal Hospital Winterthur, Institute of Radiology and Nuclear Medicine, Winterthur, Switzerland.
  • Meienberg J; Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Rohrbach M; Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Steinmann B; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich Eleonore Foundation, Zurich, Switzerland.
  • Matyas G; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich Eleonore Foundation, Zurich, Switzerland.
Clin Genet ; 97(2): 235-245, 2020 02.
Article em En | MEDLINE | ID: mdl-31506931
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Contratura / Aracnodactilia / Fibrilina-1 / Fibrilina-2 / Síndrome de Marfan Tipo de estudo: Guideline / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Contratura / Aracnodactilia / Fibrilina-1 / Fibrilina-2 / Síndrome de Marfan Tipo de estudo: Guideline / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suíça