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Browsing by Author Brasil, Sandra

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RightsPreviewIssue DateTitleAuthor(s)Type
openAccessDesviatLr_GenerationAndCharacterization.pdf.jpg22-Jul-2017Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneAlonso-Barroso, Esmeralda; Brasil, Sandra ORCID; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC; Pérez, Belén; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSICartículo
openAccessPérezB_GenerationAndCharactization.pdf.jpg5-Apr-2018Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB typeRichard, Eva CSIC; Brasil, Sandra ORCID; Briso-Montiano, Alvaro; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC; Desviat, Lourdes R. CSIC ORCID; Pérez, Belénartículo
openAccessimproving_deseases_2018.pdf.jpg24-Jul-2018Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsBrasil, Sandra ORCID; Leal, Fátima; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. CSIC ORCID; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, Mari L.; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar CSIC; Ugarte, Magdalena CSIC; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belénartículo
openAccessPérezB_MethylmalonicAciduriaCBIB.pdf.jpg2015Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studiesBrasil, Sandra ORCID; Richard, Eva CSIC; Jorge-Finnigan, A.; Leal, Fátima; Merinero, Begoña CSIC; Banerjee, R.; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC; Pérez, Belénartículo
openAccessPérezB_TheEffectsOfPMM2-CDG-CausingMutations.pdf.jpg2015The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 ProteinYuste-Checa, Patricia CSIC; Gámez, Alejandra CSIC ORCID; Brasil, Sandra ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC; Pérez-Cerdá, Celia; Pérez, Belénartículo