Browsing by Author Sau, Cristina
Showing results 1 to 2 of 2
| 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 |
| 9-Dec-2024 | Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype | Esteve Garcia, Anna; Sau, Cristina; Padró i Miquel, Ariadna; Català-Mora, Jaume; Aguilera, Cinthia; Cobos, Estefania |