Browsing by Author Pineda Marfà, Mercè
Showing results 5 to 6 of 6
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| Issue Date | Title | Author(s) |
|---|---|---|
| Feb-2020 | Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspition of RASopathy and children with multiple café-au-lait macules | Castellanos, Elisabeth; Rosas, Inma; Negro, Alex; Gel Moreno, Bernat; Alibés, Andreu; Baena, Neus; Pineda Marfà, Mercè; Pi, Graciela; Pintos, Guillem; Salvador, Hector; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Vilageliu i Arqués, Lluïsa; Brems, Hilde; Grinberg Vaisman, Daniel Raúl; Legius, Eric; Serra Arenas, Eduard |
| Dec-2016 | Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype | Lucariello, Mario; Vidal, Enrique; Vidal, Silvia; Sáez, Mauricio A.; Roa, Laura; Huertas, Dori; Pineda Marfà, Mercè; Dalfó Capella, Esther; Dopazo, Joaquín; Jurado, Paola; Armstrong i Morón, Judith; Esteller, Manel |