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Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
Gallego, Diana; Leal, Fátima; Gámez Abascal, María Alejandra
; Castro, Margarita; Navarrete, Rosa; Sanchez-Lijarcio, Obdulia; Vitoria, Isidro; Bueno-Delgado, María; Belanger-Quintana, Amaya; Morais, Ana; Pedrón-Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo, Veronica; Gil, David; Yahyaoui, Raquel; Ruiz Desviat, Lourdes; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén
2020-04-25
; Castro, Margarita; Navarrete, Rosa; Sanchez-Lijarcio, Obdulia; Vitoria, Isidro; Bueno-Delgado, María; Belanger-Quintana, Amaya; Morais, Ana; Pedrón-Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo, Veronica; Gil, David; Yahyaoui, Raquel; Ruiz Desviat, Lourdes; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén
2020-04-25
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
Brasil, Sandra; Leal, Fátima; Vega, Ana; Navarrete, Rosa; Ecay, María Jesús; Ruiz Desviat, Lourdes; Riera, Casandra; Padilla, Natàlia; De La Cruz, Xavier; Couce, Mari Luz; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; De Almeida, Isabel Tavares; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez Pombo, Pilar; Ugarte, Magdalena; Pérez-Cerda, Celia; Merinero, Begoña; Pérez, Belén
2018-07-24
; Riera, Casandra; Padilla, Natàlia; De La Cruz, Xavier; Couce, Mari Luz; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; De Almeida, Isabel Tavares; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez Pombo, Pilar; Ugarte, Magdalena; Pérez-Cerda, Celia; Merinero, Begoña; Pérez, Belén
2018-07-24