Publications en collaboration avec des chercheurs de Radboud University Nijmegen Medical Centre (4)

2023

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

    Frontiers in Genetics, Vol. 14

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

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

    Scientific Reports, Vol. 11, Núm. 1

2018

  1. Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis

    Human molecular genetics, Vol. 27, Núm. 24, pp. 4333-4343