Browsing by Author Morales Romero, Blai
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
|---|---|---|
| 15-Oct-2022 | Diagnostic odyssey in an adult patient with ophthalmologic abnormalities and hearing loss: Contribution of RNA-seq to the diagnosis of a PEX1 deficiency. | Muñoz-Pujol, Gerard; Alforja, Socorro; Casaroli Marano, Ricardo Pedro; Morales Romero, Blai; García Villoria, Judit; Yépez, Vicente A; Gagneur, Julien; Gusic, Mirjana; Prokisch, Holger; Tort, Frederic; Ribes Rubió, Maria Antònia |
| 16-Dec-2024 | Estratègies d'identificació i caracterització d’alteracions bioquímiques i moleculars en malalties metabòliques hereditàries | Morales Romero, Blai |
| 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 |