Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

2024

  1. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

    International Journal of Molecular Sciences, Vol. 25, Núm. 5

2023

  1. ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

    Frontiers in Genetics, Vol. 14

2022

  1. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

    Ophthalmic genetics, Vol. 43, Núm. 6, pp. 809-816