Browsing by Author Muñoz Pujol, Gerard
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
|---|---|---|
| Jul-2024 | Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing | Morales Romero, Blai; Muñoz Pujol, Gerard; Artuch Iriberri, Rafael; García Cazorla, Àngels; O'Callaghan, Mar; Sykut Cegielska, Jolanta; Campistol Plana, Jaume; Moreno Lozano, Pedro Juan; Oud, Machteld M; Wevers, Ron A.; Lefeber, Dirk J.; Esteve Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes Rubió, Maria Antònia; Garcia Villoria, Judit; Tort, Frederic |
| 23-Nov-2023 | Implementació i desenvolupament d'estudis funcionals per demostrar la patogenicitat de variants de significat incert i identificar nous gens causants de malaltia | Muñoz Pujol, Gerard |
| 30-Nov-2022 | Leigh syndrome is the main clinical characteristic of PTCD3 deficiency | Muñoz Pujol, Gerard; Ortigoza Escobar, Juan D.; Paredes Fuentes, Abraham José; Jou, Cristina; Ugarteburu López, Olatz; Gort, Laura; Yubero, Delia; Garcia Cazorla, Angels; O'Callaghan, Mar; Campistol Plana, Jaume; Muchart, Jordi.; Yépez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch Iriberri, Rafael; Ribes Rubió, Maria Antònia; Urreizti, Roser; Tort, Frederic |