Browsing by Author Urreizti Frexedas, Roser

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Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)
18-Sep-2014A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDGDelgado, M. A.; Martinez-Domenech, G.; Sarrión, P.; Urreizti Frexedas, Roser; Zecchini, L.; Robledo, H. H.; Segura, F.; Dodelson, R.; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Asteggiano, Carla
12-Jan-2018A de novo FOXP1 truncating mutation in a patient originally diagnosed as C SyndromeUrreizti Frexedas, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
10-Mar-2017A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromesUrreizti Frexedas, 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 Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
15-Apr-2014Genetic analysis of high bone mass cases from the BARCOS cohort of spanish postmenopausal womenSarrión Pérez-Caballero, Patricia; Mellivobsky, Leonardo; Urreizti Frexedas, Roser; Civit Vives, Sergi; Cols Coll, Neus; Garcia Giralt, Natàlia; Yoskovitz, Guy; Aranguren, Alvaro; Malouf, Jorge; Di Gregorio, Silvana; Río y Lara, Luis del; Güerri, Roberto; Nogués Solán, Xavier; Diez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
15-Apr-2012Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fractureBalcells Comas, Susana; Urreizti Frexedas, Roser
21-Apr-2011Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patientsCozar, Monica; Urreizti Frexedas, Roser; Vilarinho, Laura; Grosso, Carola; Dodelson de Kremer, Raquel; Asteggiano, Carla; Dalmau Obrador, Josep; García, Ana; Vilaseca, María; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
10-Nov-2015MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bonesDe-Ugarte, Laura; Yoskovitz, Guy; Balcells Comas, Susana; Güerri-Fernández, Robert; Martínez-Díaz, Santos; Mellibovsky, Leonardo; Urreizti Frexedas, Roser; Nogués, Xavier; Grinberg Vaisman, Daniel Raúl; Garcia Giralt, Natàlia; Diez Pérez, Adolfo
26-Feb-2013Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromasSarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti Frexedas, Roser; Delgado, A.; Artuch, R.; Martorell, L.; Armstrong, J.; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M.A.; Nevado, J.; Lapunzina, P.; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl
26-Feb-2013Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromasSarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti Frexedas, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, P.; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl