Browsing by Author Jiménez-Mallebrera, Cecilia

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Issue DateTitleAuthor(s)
16-Apr-2022CRISPR/Cas9-mediated allele-specific disruption of a dominant COL6A1 pathogenic variant improves collagen VI network in patient fibroblastsLópez-Márquez, Arístides; Morín, Matías; Fernández-Peñalver, Sergio; Badosa, Carmen; Hernández-Delgado, Alejandro; Natera-de Benito, Daniel; Ortez, Carlos; Nascimento, Andrés; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Roldán Molina, Mònica; Moreno-Pelayo, Miguel Ángel; Jiménez-Mallebrera, Cecilia
6-Jan-2019Late-onset thymidine kinase 2 deficiency: a review of 18 casesDomínguez González, Cristina; Hernández lain, Aurelio; Rivas, Eloy; Hernández Voth, Ana; Sayas Catalán, Javier; Fernández Torrón, Roberto; Fuiza Luces, Carmen; García García, Jorge; Morís, Germán; Olivé i Plana, Montserrat; Miralles, Francesc; Díaz Manera, Jordi; Caballero, Candela; Méndez Ferrer, Bosco; Martí, Ramon; García Arumí, Elena; Badosa, Carmen; Esteban, Jesús; Jiménez-Mallebrera, Cecilia; Blázquez Encinar, Alberto; Arenas, Joaquín; Hirano, Michio; Martin, Miguel Ángel; Paradas, Carmen