Norma Specola
AuthID: R-00H-PJ7
1
TITLE: Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants Full Text
AUTHORS: Sandra Brasil; Fatima Leal; Ana Vega; Rosa Navarrete; Maria J Jesus Ecay; Lourdes R Desviat; Casandra Riera; Natalia Padilla; Xavier de la Cruz; Mari L Luz Couce; Elena Martin Hernandez; Ana Morais; Consuelo Pedron; Luis Pena Quintana; Miriam Rigoldi; Norma Specola; Isabel T Tavares de Almeida; Inmaculada Vives; Raquel Yahyaoui; Pilar Rodriguez Pombo; ...More
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
AUTHORS: Sandra Brasil; Fatima Leal; Ana Vega; Rosa Navarrete; Maria J Jesus Ecay; Lourdes R Desviat; Casandra Riera; Natalia Padilla; Xavier de la Cruz; Mari L Luz Couce; Elena Martin Hernandez; Ana Morais; Consuelo Pedron; Luis Pena Quintana; Miriam Rigoldi; Norma Specola; Isabel T Tavares de Almeida; Inmaculada Vives; Raquel Yahyaoui; Pilar Rodriguez Pombo; ...More
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
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