Roser Urreizti
AuthID: R-00F-DHV
1
TITLE: Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG Full Text
AUTHORS: Pajusalu, Sander; Vals, Mari Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire Marine; Vuillaumier Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; ...More
PUBLISHED: 2024, SOURCE: HUMAN MUTATION, VOLUME: 2024
AUTHORS: Pajusalu, Sander; Vals, Mari Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire Marine; Vuillaumier Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; ...More
PUBLISHED: 2024, SOURCE: HUMAN MUTATION, VOLUME: 2024
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TITLE: Identification and Functional Analyses of CBS Alleles in Spanish and Argentinian Homocystinuric Patients Full Text
AUTHORS: Monica Cozar; Roser Urreizti; Laura Vilarinho; Carola Grosso; Raquel D Dodelson de Kremer; Carla G Asteggiano; Jaime Dalmau; Ana M Maria Garcia; Maria A Antonia Vilaseca; Daniel Grinberg; Susana Balcells;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 7
AUTHORS: Monica Cozar; Roser Urreizti; Laura Vilarinho; Carola Grosso; Raquel D Dodelson de Kremer; Carla G Asteggiano; Jaime Dalmau; Ana M Maria Garcia; Maria A Antonia Vilaseca; Daniel Grinberg; Susana Balcells;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 7
3
TITLE: Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency Full Text
AUTHORS: Urreizti, R; Moya Garcia, AA; Pino Angeles, A; Cozar, M; Langkilde, A; Fanhoe, U; Esteves, C; Arribas, J; Vilaseca, MA; Perez Duenas, B; Pineda, M; Gonzalez, V; Artuch, R; Baldellou, A; Vilarinho, L; Fowler, B; Ribes, A; Sanchez Jimenez, F; Grinberg, D; Balcells, S;
PUBLISHED: 2010, SOURCE: CLINICAL GENETICS, VOLUME: 78, ISSUE: 5
AUTHORS: Urreizti, R; Moya Garcia, AA; Pino Angeles, A; Cozar, M; Langkilde, A; Fanhoe, U; Esteves, C; Arribas, J; Vilaseca, MA; Perez Duenas, B; Pineda, M; Gonzalez, V; Artuch, R; Baldellou, A; Vilarinho, L; Fowler, B; Ribes, A; Sanchez Jimenez, F; Grinberg, D; Balcells, S;
PUBLISHED: 2010, SOURCE: CLINICAL GENETICS, VOLUME: 78, ISSUE: 5
