Browsing by Author Aguilera, Cinthia
Showing results 1 to 5 of 5
| 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 |
| 22-Mar-2023 | Improving hemorrhagic hereditary telangiectasia molecular diagnosis: a referral center experience | Aguilera, Cinthia; Padró i Miquel, Ariadna; Esteve Garcia, Anna; Cerdà, Pau; Torres Iglesias, Raquel; Llecha, Núria; Riera Mestre, Antoni |
| 1-Jan-2024 | New genetic drivers in hemorrhagic hereditary telangiectasia. | Cerdà, Pau; Castillo, Sandra D.; Aguilera, Cinthia; Iriarte, Adriana; Rocamora, José Luis; Larrinaga, Ane M.; Viñals Canals, Francesc; Graupera i Garcia-Milà, Mariona; Riera Mestre, Antoni |
| 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 |
| 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 |