Browsing by Author Castro-Miró, Marta de
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
|---|---|---|
| 21-Sep-2019 | Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1 | Valero Gils, Rebeca; Castro-Miró, Marta de; Jiménez Ochoa, Sofía; Rodríguez Ezcurra, Juan José; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser |
| 7-Feb-2014 | Combined genetic and high-throughput strategies for the molecular diagnosis of inherited retinal dystrophies | Castro-Miró, Marta de; Pomares, Esther; Lorés-Motta, Laura; Tonda, Raul; Dopazo, Joaquín; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser |
| 31-Mar-2020 | Increasing the genetic diagnosis yield in inherited retinal dystrophies: assigning pathogenicity to novel non-canonical splice site variants | Toulis, Vasileios; Cortés-González, Vianney; Castro-Miró, Marta de; Sallum, Juliana Ferraz; Català-Mora, Jaume; Villanueva-Mendoza, Cristina; Ciccioli, Marcela; Gonzàlez-Duarte, Roser; Valero, Rebeca; Marfany i Nadal, Gemma |