Browsing by Author Cozar, Mónica

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Showing results 1 to 4 of 4
Issue DateTitleAuthor(s)
1-Dec-2018Functional characterization of a GGPPS variant indentified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell typesRoca Ayats, Neus; Ng, Pei Ying; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Diez Pérez, Adolfo
2-Jun-2020Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in GreeceDimitriou, Evangelia; Moraitou, Marina; Cozar, Mónica; Serra Vinardell, Jenny; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Mavridou, Irene; Michelakakis, Helen
24-Oct-2019Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndromeBenetó, Noelia; Cozar, Mónica; García-Morant, María; Creus-Bachiller, Edgar; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac
6-Jan-2021Genetics and Genomics of SOST: functional analysis of variants and genomic regulation in osteoblastsMartínez-Gil, Núria; Roca Ayats, Neus; Cozar, Mónica; Garcia Giralt, Natàlia; Ovejero, Diana; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana