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Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Stengl, Roland; Bors, András; Ágg, Bence; Pólos, Miklós; Matyas, Gabor; Molnár, Mária Judit; Fekete, Bálint; Csabán, Dóra; Andrikovics, Hajnalka; Merkely, Béla; Radovits, Tamás; Szabolcs, Zoltán; Benke, Kálmán.
Afiliación
  • Stengl R; Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary. rolandstengl01@gmail.com.
  • Bors A; Hungarian Marfan Foundation, Városmajor u. 68, Budapest, 1122, Hungary. rolandstengl01@gmail.com.
  • Ágg B; Laboratory of Molecular Genetics, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Albert Flórián út 5-7, Budapest, 1097, Hungary. rolandstengl01@gmail.com.
  • Pólos M; Laboratory of Molecular Genetics, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Albert Flórián út 5-7, Budapest, 1097, Hungary.
  • Matyas G; Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary.
  • Molnár MJ; Hungarian Marfan Foundation, Városmajor u. 68, Budapest, 1122, Hungary.
  • Fekete B; Department of Pharmacology and Pharmacotherapy, Semmelweis University, Ülloi út 26, Budapest, 1085, Hungary.
  • Csabán D; Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary.
  • Andrikovics H; Hungarian Marfan Foundation, Városmajor u. 68, Budapest, 1122, Hungary.
  • Merkely B; Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People With Rare Diseases, Wagistrasse 25, 8952, Schlieren, Zurich, Switzerland.
  • Radovits T; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömo u. 25-29, Budapest, 1083, Hungary.
  • Szabolcs Z; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömo u. 25-29, Budapest, 1083, Hungary.
  • Benke K; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömo u. 25-29, Budapest, 1083, Hungary.
Orphanet J Rare Dis ; 15(1): 290, 2020 10 15.
Article en En | MEDLINE | ID: mdl-33059708
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Loeys-Dietz / Síndrome de Marfan Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Loeys-Dietz / Síndrome de Marfan Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Reino Unido