Browsing by Author Baena, Neus
Showing results 1 to 2 of 2
| 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 |
| 7-May-2024 | Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome | Baena, Neus; Monk, David; Aguilera, Cinthia; Fraga, Mario F.; Fernández, Agustín F.; Gabau, Elisabeth; Corripio, Raquel; Capdevila, Nuria; Trujillo, Juan Pablo; Ruiz, Anna; Guitart, Miriam |