Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 27-jul-2021 | Evaluating, filtering and clustering genetic disease cohorts based on human phenotype ontology data with cohort analyzer | Rojano, Elena; Córdoba-Caballero, José; Jabato, Fernando M.; Gallego, Diana; Serrano, Mercedes; Pérez, Belén CSIC ORCID; Parés-Aguilar, Álvaro; Perkins, James R.; Ranea, Juan A. G.; Seoane-Zonjic, Pedro | artículo |
openAccess | | 23-jul-2021 | Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite | Jabato, Fernando M.; Córdoba-Caballero, José; Rojano, Elena; Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID ; Pérez, Belén CSIC ORCID; Gallego, Diana; Seoane, Pedro; Ranea, Juan A. G.; Perkins, James R. | artículo |
openAccess | | 2021 | Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite | Jabato, Fernando M.; Córdoba-Caballero, José; Rojano, Elena; Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID ; Pérez, Belén CSIC ORCID; Gallego, Diana; Seoane, Pedro; Ranea, Juan A. G.; Perkins, James R. | artículo |
openAccess | | nov-2020 | New and potential strategies for the treatment of PMM2-CDG | Gámez, Alejandra CSIC ORCID; Serrano, Mercedes; Gallego, Diana; Vilas, Alicia; Pérez, Belén CSIC ORCID | artículo |
openAccess | | jul-2020 | Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia | Gallego, Diana; Leal, Fátima CSIC; Gámez, Alejandra CSIC ORCID; 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, Verónica; Gil, David; Yahyaoui, Raquel; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Martínez, Aurora; Pérez, Belén CSIC ORCID | artículo |
openAccess | | 1-jul-2020 | Proteostasis regulators as potential rescuers of PMM2 activity | Vilas, Alicia; Yuste-Checa, Patricia CSIC; Gallego, Diana; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Gámez, Alejandra CSIC ORCID; Pérez, Belén CSIC ORCID | artículo |