Publicaciones en las que colabora con Susana Noval Martín (8)

2023

  1. OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

    Current Issues in Molecular Biology, Vol. 45, Núm. 1, pp. 465-478

  2. Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

    International Journal of Molecular Sciences, Vol. 24, Núm. 14

  3. Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

    International Journal of Molecular Sciences, Vol. 24, Núm. 21

  4. Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

    Genes, Vol. 14, Núm. 10

2022

  1. Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

    International Journal of Molecular Sciences, Vol. 23, Núm. 8

2021

  1. Expanding the phenotypic spectrum of pax6 mutations: From congenital cataracts to nystagmus

    Genes, Vol. 12, Núm. 5

  2. Molecular and genetic mechanism of non-syndromic congenital cataracts. Mutation screening in spanish families

    Genes, Vol. 12, Núm. 4

2018

  1. La secuenciación masiva (NGS) como método diagnóstico en la enfermedad de Stargardt

    Archivos de la Sociedad Española de Oftalmologia, Vol. 93, Núm. 3, pp. 119-125