Listing items by Author "Scornik, Fabiana S."

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out url icon Recercat Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia Wangüemert, Fernando ; Bosch Calero, Cristina ; Pérez, Carmelo ; Campuzano Larrea, Oscar ; Beltrán Álvarez, Pedro ; Scornik, Fabiana S. ; Iglesias, Anna ; Berne, Paola ; Allegue, Catarina ; Ruiz Hernandez, Pablo M. ; Brugada Terradellas, Josep ; Pérez González, Guillermo J. ; Brugada, Ramon
out url icon Recercat Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia Wangüemert, Fernando ; Bosch Calero, Cristina ; Pérez, Carmelo ; Campuzano Larrea, Oscar ; Beltrán Álvarez, Pedro ; Scornik, Fabiana S. ; Iglesias, Anna ; Berne, Paola ; Allegue, Catarina ; Ruiz Hernandez, Pablo M. ; Brugada Terradellas, Josep ; Pérez González, Guillermo J. ; Brugada, Ramon
out url icon Recercat 2018 June 5 Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia Wangüemert, Fernando ; Bosch Calero, Cristina ; Pérez, Carmelo ; Campuzano Larrea, Oscar ; Beltrán Álvarez, Pedro ; Scornik, Fabiana S. ; Iglesias, Anna ; Berne, Paola ; Allegue, Catarina ; Ruiz Hernandez, Pablo M. ; Brugada Terradellas, Josep ; Pérez González, Guillermo J. ; Brugada, Ramon
out url icon Recercat 2020 February 15 Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia Wangüemert, Fernando ; Bosch Calero, Cristina ; Pérez, Carmelo ; Campuzano Larrea, Oscar ; Beltrán Álvarez, Pedro ; Scornik, Fabiana S. ; Iglesias, Anna ; Berne, Paola ; Allegue, Catarina ; Ruiz Hernandez, Pablo M. ; Brugada Terradellas, Josep ; Pérez González, Guillermo J. ; Brugada, Ramon
doc icon DUGiDocs Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia Wangüemert, Fernando ; Bosch Calero, Cristina ; Pérez, Carmelo ; Campuzano Larrea, Oscar ; Beltrán Álvarez, Pedro ; Scornik, Fabiana S. ; Iglesias, Anna ; Berne, Paola ; Allegue Toscano, Catarina ; Ruiz Hernandez, Pablo M. ; Brugada Terradellas, Josep ; Pérez González, Guillermo J. ; Brugada, Ramon
doc icon DUGiDocs 2021 June 2 Effect of sodium channel SNVs associated to arrhythmogenic diseases. Modulatory role of the genetic background Martínez Moreno, Rebecca
out url icon Recercat A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome Tarradas Pou, Anna ; Selga Coma, Elisabet ; Beltrán Álvarez, Pedro ; Pérez Serra, Alexandra ; Riuró Cáceres, Helena ; Picó, Ferran ; Iglesias, Anna ; Campuzano Larrea, Oscar ; Castro Urda, Víctor ; Fernández Lozano, Ignacio ; Pérez González, Guillermo J. ; Scornik, Fabiana S. ; Brugada, Ramon
out url icon Recercat A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome Tarradas Pou, Anna ; Selga Coma, Elisabet ; Beltrán Álvarez, Pedro ; Pérez Serra, Alexandra ; Riuró Cáceres, Helena ; Picó, Ferran ; Iglesias, Anna ; Campuzano Larrea, Oscar ; Castro Urda, Víctor ; Fernández Lozano, Ignacio ; Pérez González, Guillermo J. ; Scornik, Fabiana S. ; Brugada, Ramon
out url icon Recercat 2018 June 5 A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome Tarradas Pou, Anna ; Selga Coma, Elisabet ; Beltrán Álvarez, Pedro ; Pérez Serra, Alexandra ; Riuró Cáceres, Helena ; Picó, Ferran ; Iglesias, Anna ; Campuzano Larrea, Oscar ; Castro Urda, Víctor ; Fernández Lozano, Ignacio ; Pérez González, Guillermo J. ; Scornik, Fabiana S. ; Brugada, Ramon
doc icon DUGiDocs 2013 January A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome Tarradas Pou, Anna ; Selga Coma, Elisabet ; Beltrán Álvarez, Pedro ; Perez-Serra, Alexandra ; Riuró Cáceres, Helena ; Picó, Ferran ; Iglesias, Anna ; Campuzano Larrea, Oscar ; Castro Urda, Víctor ; Fernández Lozano, Ignacio ; Pérez González, Guillermo J. ; Scornik, Fabiana S. ; Brugada, Ramon
out url icon Recercat El paper de les subunitats beta en la regulació del canal de sodi cardíac associat a la mort sobtada Riuró Cáceres, Helena
doc icon DUGiDocs 2019 January 30 Regulome-seq: a novel approach for the identification of non-coding variants associated with human disease. Assessment of its applicability in 89 Brugada syndrome individuals Pinsach Abuin, Mel·lina
out url icon Recercat 2018 June 5 Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient Selga Coma, Elisabet ; Sendfeld, Franziska ; Martínez Moreno, Rebecca ; Medine, Claire N. ; Tura Ceide, Olga ; Wilmut, Ian ; Pérez González, Guillermo J. ; Scornik, Fabiana S. ; Brugada, Ramon ; Mills, Nicholas L.
out url icon Recercat 2020 February 15 Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient Selga Coma, Elisabet ; Sendfeld, Franziska ; Martínez Moreno, Rebecca ; Medine, Claire N. ; Tura Ceide, Olga ; Wilmut, Ian ; Pérez González, Guillermo J. ; Scornik, Fabiana S. ; Brugada, Ramon ; Mills, Nicholas L.
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