Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome by Noelia Benetó, Monica Cozar, Laura Gort, Laura Pacheco, Lluïsa Vilageliu, Daniel Grinberg, Isaac Canals

Get full text

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece by Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis

Get full text

Genetics and Genomics of <i>SOST</i>: Functional Analysis of Variants and Genomic Regulation in Osteoblasts by Núria Martínez-Gil, Neus Roca-Ayats, Mónica Cozar, Natàlia Garcia-Giralt, Diana Ovejero, Xavier Nogués, Daniel Grinberg, Susanna Balcells

Get full text

On the association between Chiari malformation type 1, bone mineral density and bone related genes by Núria Martínez-Gil, Leonardo Mellibovsky, Demián Manzano-López González, Juan David Patiño, Monica Cozar, Raquel Rabionet, Daniel Grinberg, Susanna Balcells

Get full text

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases. by Marta Gómez-Grau, Elena Garrido, Mónica Cozar, Víctor Rodriguez-Sureda, Carmen Domínguez, Concepción Arenas, Richard A Gatti, Bru Cormand, Daniel Grinberg, Lluïsa Vilageliu

Get full text