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Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.
Blinc, A; Maver, A; Rudolf, G; Tasic, J; Pretnar Oblak, J; Berden, P; Peterlin, B.
Afiliação
  • Blinc A; Department of Vascular Diseases, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia. Electronic address: ales.blinc@kclj.si.
  • Maver A; Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia.
  • Rudolf G; Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia.
  • Tasic J; Department of Cardiology, Division of Internal Medicine, University of Ljubljana Medical Centre, Ljubljana, Slovenia.
  • Pretnar Oblak J; Department of Vascular and Intensive Care Neurology, Division of Neurology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
  • Berden P; Clinical Institute of Radiology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
  • Peterlin B; Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
Eur J Vasc Endovasc Surg ; 50(6): 816-21, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26409702
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Testes Genéticos / Mutação de Sentido Incorreto / Proteína Smad3 / Síndrome de Loeys-Dietz / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Vasc Endovasc Surg Assunto da revista: ANGIOLOGIA Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Testes Genéticos / Mutação de Sentido Incorreto / Proteína Smad3 / Síndrome de Loeys-Dietz / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Vasc Endovasc Surg Assunto da revista: ANGIOLOGIA Ano de publicação: 2015 Tipo de documento: Article