heiBIB: Semino, Francesca

Semino, Francesca Dr. med.Universität HeidelbergHeidelberg

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Semino, Francesca: GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome / Francesca Semino, Fabrice F. Darche, Claus Bruehl, Michael Koenen, Heyko Skladny, Hugo A. Katus, Nor… , 2024. - 14 S. : Illustrationen
In: Pflügers Archiv, ISSN 1432-2013. 476(2024), 2 vom: Dez., Seite 229-242
DOI: 10.1007/s00424-023-02882-0
Semino, Francesca: Clinical and electrophysiological characterisation of a new combined SCN5A and GPD1L variant in a family affected by Brugada syndrome / vorgelegt von Francesca Semino ; Doktorvater: Herr Prof. Dr. med. Andreas Draguhn. -
Heidelberg, 2023. - 116 Blätter : Illustrationen, Diagramme
Semino, Francesca: Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder / Francesca Semino, Julian Schröter, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck… , 2021. - 7 S. : Illustrationen
In: Human mutation, ISSN 1098-1004. 42(2021), 9, Seite 1094-1100
DOI: 10.1002/humu.24245

GND:	129932763X

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