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Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
Delinière, Antoine; Haddad, Christelle; Herrera-Siklódy, Claudia; Hermida, Alexis; Pruvot, Etienne; Bressieux-Degueldre, Sabrina; Millat, Gilles; Janin, Alexandre; Hermida, Jean-Sylvain; Asatryan, Babken; Chevalier, Philippe.
Afiliação
  • Delinière A; National Reference Center for Inherited Arrhythmias of Lyon, Department of Cardiac Electrophysiology, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon (HCL), Lyon, France (A.D., C.H., P.C.).
  • Haddad C; University of Lyon, Claude Bernard Lyon 1 University, MeLiS, CNRS UMR 5284, INSERM U1314, Institut NeuroMyoGène, Lyon, France (A.D., P.C.).
  • Herrera-Siklódy C; National Reference Center for Inherited Arrhythmias of Lyon, Department of Cardiac Electrophysiology, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon (HCL), Lyon, France (A.D., C.H., P.C.).
  • Hermida A; Arrhythmia Unit, Department of Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (C.H.-S., E.P.).
  • Pruvot E; Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France (A.H., J.-S.H.).
  • Bressieux-Degueldre S; Arrhythmia Unit, Department of Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (C.H.-S., E.P.).
  • Millat G; Pediatric Cardiology Unit, Woman-Mother-Child Department, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland (S.B.-D.).
  • Janin A; Cardiogenetic laboratory, Centre de biologie et pathologie Est, Hospices Civils de Lyon (HCL), Lyon, France (G.M., A.J.).
  • Hermida JS; Cardiogenetic laboratory, Centre de biologie et pathologie Est, Hospices Civils de Lyon (HCL), Lyon, France (G.M., A.J.).
  • Asatryan B; Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France (A.H., J.-S.H.).
  • Chevalier P; Department of Cardiology, Inselspital, Bern University Hospital, Bern, Switzerland (B.A.).
Circ Genom Precis Med ; 16(3): 280-282, 2023 06.
Article em En | MEDLINE | ID: mdl-37009738

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Síndrome do QT Longo / Sindactilia Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Síndrome do QT Longo / Sindactilia Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article