Browsing by Author Lázaro, Conxi

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Showing results 9 to 11 of 11 < previous 
Issue DateTitleAuthor(s)
25-Nov-2021RNA assay identifies a previous misclassification of BARD1 c.1977A>G variantRofes, Paula; Pineda, Marta; Feliubadaló, Lídia; Menéndez, Mireia; Cid, Rafael de; Gómez, Carolina; Montes, Eva; Capellá, G. (Gabriel); Brunet, Joan; Valle, Jesús del; Lázaro, Conxi
May-2022Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseasesBullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana
4-Jan-2024Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromasMazuelas, Helena; Magallón-lorenz, Miriam; Uriarte-arrazola, Itziar; Negro, Alejandro; Rosas, Inma; Blanco, Ignacio; Castellanos, Elisabeth; Lázaro, Conxi; Gel, Bernat; Carrió, Meritxell; Serra, Eduard