Publicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria La Fe (2)

2021

  1. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

    Human Genetics, Vol. 138, Núm. 8-9, pp. 1027-1042