Browsing by Author Valle Domínguez, Jesús del

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Showing results 6 to 11 of 11 < previous 
Issue DateTitleAuthor(s)
1-Dec-2020Evaluation of CNV detection tools for NGS panel data in genetic diagnosticsMoreno Cabrera, José Marcos; Valle Domínguez, Jesús del; Castellanos, Elisabeth; Feliubadaló i Elorza, Maria Lídia; Pineda Riu, Marta; Brunet, Joan; Serra, Eduard; Capellá, G. (Gabriel); Lázaro García, Conxi; Gel, Bernat
31-Mar-2022Genetic approaches to improve hereditary cancer diagnosis based on next-generation sequencing dataRofes Terrón, Paula
28-Nov-2019Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutationDámaso, Estela; Canet Hermida, Júlia; Vargas Parra, Gardenía María; Velasco, Àngela; Marín, Fátima; Darder, Esther; Valle Domínguez, Jesús del; Fernández, Anna; Izquierdo i Font, Àngel Xavier; Mateu, Gemma; Oliveras, Glòria; Escribano, Carmen; Piñol, Virgínia; Uchima, Hugo Ikuo; Soto, José Luis; Hitchins, Megan; Farrés, Ramon; Lázaro García, Conxi; Queralt, Bernat; Brunet, Joan; Capellá, G. (Gabriel); Pineda Riu, Marta
Oct-2018Primary constitutional MLH1 epimutations: a focal epigenetic eventDámaso, Estela; Castillejo, Adela; Arias, María del Mar; Canet Hermida, Júlia; Navarro, Matilde; Valle Domínguez, Jesús del; Campos, Olga; Fernández, Anna; Marín, Fátima; Turchetti, Daniela; García Díaz, Juan de Dios; Lázaro García, Conxi; Genuardi, Maurizio; Rueda, Daniel; Alonso, Ángel; Soto, Jose Luis; Hitchins, Megan; Pineda Riu, Marta; Capellá, G. (Gabriel)
28-Apr-2021The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young IndividualsCarrato, Cristina; Sanz, Carolina; Muñoz Mármol, Ana María; Blanco Guillermo, Ignacio; Pineda Riu, Marta; Valle Domínguez, Jesús del; Dámaso, Estela; Esteller, Manel; Musulén, Eva
1-Feb-2020The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer CasesBrunet, Joan; Darder, Esther; Valle Domínguez, Jesús del; Lázaro García, Conxi; ENIGMA Consortium; GENESIS Study Collaborators; SWE-BRCA Group