Publications dans lesquelles il/elle collabore avec Carmen Ayuso García (4)

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

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports