Browsing by Author Padró Miquel, Ariadna
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
|---|---|---|
| 21-Feb-2024 | Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype | Esteve Garcia, Anna; Cobos, Estefania; Sau, Cristina; Padró Miquel, Ariadna; Català Mora, Jaume; Barberán-martínez, Pilar; Millán, José M.; García García, Gema; Aguilera, Cinthia |
| 2-Feb-2024 | Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population | Borrego Hernández, Daniel; Vázquez Costa, Juan Francisco; Domínguez Rubio, Raúl; Expósito Blázquez, Laura; Aller, Elena; Padró Miquel, Ariadna; García Casanova, Pilar; Colomina, María J.; Martín Arriscado, Cristina; Osta, Rosario; Cordero Vázquez, Pilar; Esteban Pérez, Jesús; Povedano Panadés, Mónica; García Redondo, Alberto |
| 1-Dec-2023 | Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think? | Aguilera, Cinthia; Esteve Garcia, Anna; Casasnovas, Carlos; Vélez Santamaría, Valentina; Rausell, Laura; Gargallo, Pablo; Garcia Planells, Javier; Alia Ramos, Pedro; Llecha, Núria; Padró Miquel, Ariadna |