Browsing by Author Pineda Marfà, Mercè
Showing results 2 to 6 of 6
< previous
| Issue Date | Title | Author(s) |
|---|---|---|
| 2-Jul-2012 | Espectro clínico-mutacional y estudios de correlación genotipo-fenotipo en la población española afectada de lipofuscinosis neuronal ceroidea | Pérez Poyato, María del Socorro |
| 11-Feb-2016 | GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction | Montero Sánchez, Raquel; Yubero Siles, Dèlia; Villarroya i Terrade, Joan; Henares, Desiree; Jou, Cristina; Rodríguez, María Angeles; Ramos, Federico; Nascimento, Andrés; Ortez, Carlos Ignacio; Campistol Plana, Jaume; Pérez Dueñas, Belén; O'Callaghan, Mar; Pineda Marfà, Mercè; Garcia-Cazorla, Àngels; Oferil, Jaume Colomer; Montoya, Julio; Ruiz Pesini, Eduardo; Emperador, Sonia; Meznaric, Marija; Campderrós Traver, Laura; Kalko, Susana; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Jiménez Mallebrera, Cecilia |
| 1-Aug-2007 | La amnesia global transitoria: entidad infrecuente en la infancia | Sebastiani, Giorgia; Simó Parra, Marta; Luaces Cubells, Carles; Pineda Marfà, Mercè; García García, Juan José |
| 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 |