Examinant per Autoria "Roca Ayats, Neus"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes(Nature Publishing Group, 2017) Urreizti, Roser; Cueto González, Anna María; 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
Ítem Accés Obert Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density(Nature Research, 2018) Martínez-Gil, Núria; Roca Ayats, Neus; Monistrol-Mula, Anna; García-Giralt, Natalia; Diez-Perez, Adolfo; Nogués Solan, Francesc Xavier; Mellibovsky, Leonardo; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Evolutionary and functional analyses of LRP5 in archaic and extant modern humans(BioMed Central, 2024) Roca Ayats, Neus; Maceda Porto, Iago, 1986-; Bruque, Carlos David; Martínez-Gil, Núria; Garcia Giralt, Natàlia; Cozar, Mónica; Mellibovsky, Leonardo; Van Hul, Wim; Lao Grueso, Oscar, 1976-; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Functional analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures(MDPI, 2021) Ugartondo, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero Crespo, Diana; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Functional assessment of coding and regulatory variants from the DKK1 locus(Wiley, 2020) Martínez-Gil, Núria; Roca Ayats, Neus; Atalay, Nurgül; Pineda-Moncusí, Marta; Garcia Giralt, Natàlia; Van Hul, Wim; Boudin, Eveline; Ovejero Crespo, Diana; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Diez-Perez, Adolfo; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types(Wiley, 2018) Roca Ayats, Neus; Ng, Pei Ying; García-Giralt, Natalia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc; Quesada-Gómez, J.M.; Prieto-Alhambra, Daniel; Nogués Solan, Francesc Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg, Daniel; Balcells, Susana; Díez Pérez, Adolfo
Ítem Accés Obert Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3(Elsevier, 2019) Roca Ayats, Neus; Martínez-Gil, Núria; Cozar, Mónica; Gerousi, Marina; Garcia Giralt, Natàlia; Ovejero Crespo, Diana; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment(MDPI, 2022) Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc; Martínez-Gil, Núria; Ovejero Crespo, Diana; Castañeda, Santos; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Balcells, Susana; Rabionet, Raquel