Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts

por Martínez-Gil, Núria, Roca-Ayats, Neus, Cozar, Mónica, Garcia-Giralt, Natàlia, Ovejero, Diana, Nogués, Xavier, Grinberg, Daniel, Balcells, Susanna
Publicado 2021

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density

por Martínez-Gil, Núria, Roca-Ayats, Neus, Monistrol-Mula, Anna, García-Giralt, Natàlia, Díez-Pérez, Adolfo, Nogués, Xavier, Mellibovsky, Leonardo, Grinberg, Daniel, Balcells, Susana
Publicado 2018

Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment

por Garcia-Giralt, Natalia, Roca-Ayats, Neus, Abril, Josep F, Martinez-Gil, Nuria, Ovejero, Diana, Castañeda, Santos, Nogues, Xavier, Grinberg, Daniel, Balcells, Susanna, Rabionet, Raquel
Publicado 2022

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

por Ugartondo, Nerea, Martínez-Gil, Núria, Esteve, Mònica, Garcia-Giralt, Natàlia, Roca-Ayats, Neus, Ovejero, Diana, Nogués, Xavier, Díez-Pérez, Adolfo, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Publicado 2021

Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus

por Martínez‐Gil, Núria, Roca‐Ayats, Neus, Atalay, Nurgül, Pineda‐Moncusí, Marta, Garcia‐Giralt, Natàlia, Van Hul, Wim, Boudin, Eveline, Ovejero, Diana, Mellibovsky, Leonardo, Nogués, Xavier, Díez‐Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna
Publicado 2020

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

por Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Héctor, Mort-Farre, Sílvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F., Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Publicado 2017