E. Vallespin-rekin lankidetzan egindako argitalpenak (8)

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

2009

  1. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

    Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 3, pp. 1065-1068

2007

  1. Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

    Molecular Vision, Vol. 13, pp. 96-101

2006

  1. Gene symbol: ABCA4. Disease: Stargardt disease 1.

    Human genetics, Vol. 119, Núm. 6, pp. 671

  2. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536.

    Human genetics, Vol. 118, Núm. 6, pp. 777

  3. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538.

    Human genetics, Vol. 118, Núm. 6, pp. 778

  4. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512.

    Human genetics, Vol. 118, Núm. 6, pp. 784