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Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology. by Oscar Campuzano, Georgia Sarquella-Brugada, Irene Mademont-Soler, Catarina Allegue, Sergi Cesar, Carles Ferrer-Costa, Monica Coll, Jesus Mates, Anna Iglesias, Josep Brugada, Ramon Brugada
Published 2014-01-01
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Unexpected complexity in the molecular diagnosis of spastic paraplegia 11 by Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón
Published 2024-06-01
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Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. by Elisabet Selga, Oscar Campuzano, Mel Lina Pinsach-Abuin, Alexandra Pérez-Serra, Irene Mademont-Soler, Helena Riuró, Ferran Picó, Mònica Coll, Anna Iglesias, Sara Pagans, Georgia Sarquella-Brugada, Paola Berne, Begoña Benito, Josep Brugada, José M Porres, Matilde López Zea, Víctor Castro-Urda, Ignacio Fernández-Lozano, Ramon Brugada
Published 2015-01-01
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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. by Irene Mademont-Soler, Jesus Mates, Raquel Yotti, Maria Angeles Espinosa, Alexandra Pérez-Serra, Ana Isabel Fernandez-Avila, Monica Coll, Irene Méndez, Anna Iglesias, Bernat Del Olmo, Helena Riuró, Sofía Cuenca, Catarina Allegue, Oscar Campuzano, Ferran Picó, Carles Ferrer-Costa, Patricia Álvarez, Sergio Castillo, Pablo Garcia-Pavia, Esther Gonzalez-Lopez, Laura Padron-Barthe, Aranzazu Díaz de Bustamante, María Teresa Darnaude, José Ignacio González-Hevia, Josep Brugada, Francisco Fernandez-Aviles, Ramon Brugada
Published 2017-01-01
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Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies by Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Monica Coll, Victoria Fiol, Anna Iglesias, Anna Iglesias, Alexandra Perez-Serra, Alexandra Perez-Serra, Jesus Mates, Bernat del Olmo, Carles Ferrer, Mireia Alcalde, Mireia Alcalde, Marta Puigmulé, Irene Mademont-Soler, Ferran Pico, Laura Lopez, Coloma Tiron, Josep Brugada, Josep Brugada, Josep Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada
Published 2019-05-01
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