Mademont-Soler I, Castells-Sarret N, Cisneros A, Foj L, Benavent-Bofill C, Xunclà M, Viñas-Jornet M, Ros A, Rey N, Blanco I, López-Ortega R, Obón M, Plaja A
Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.
Mademont-Soler I, Esteba-Castillo S, Jiménez-Xifra A, Alemany B, Ribas-Vidal N, Cutillas M, Coll M, Pinsach ML, Pagans S, Alcalde M, Viñas-Jornet M, Montero-Vale M, de Castro-Miró M, Rodríguez J, Armengol L, Queralt X, Obón M
Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.
Mademont-Soler, I, Esteba-Castillo, S, Nieto-Moragas, J, Alemany, B, Rodríguez, J, de Castro-Miró, M, Montero-Vale, MM, Cherino, A, Cutillas, M, Armengol, L, Queralt, X, Obón, M
Unexpected complexity in the molecular diagnosis of spastic paraplegia 11
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32, 210-211
Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M
ZDHHC15 as a candidate gene for autism spectrum disorder.
Mademont-Soler I, Casellas-Vidal D, Trujillo A, Espuña-Capote N, MAROTO, A., García-González MDM, Ruiz MD, Diego-Álvarez D, Queralt X, Perapoch J, Obón M
GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms
Mates J, Mademont-Soler I, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Coll M, Fiol V, Iglesias A, Perez-Serra A, Olmo BD, Alcalde M, Puigmulé M, Pico F, Lopez L, Ferrer C, Tiron C, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O
Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
