Publicaciones en las que colabora con María del Rocío Mena De la Cruz (8)

2023

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

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

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

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

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

    Genes, Vol. 14, Núm. 10

2017

  1. A new variant in PHKA2 is associated with glycogen storage disease type IXa

    Molecular Genetics and Metabolism Reports, Vol. 10, pp. 52-55

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

2015

  1. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626

2014

  1. A new overgrowth syndrome is due to mutations in RNF125

    Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441

  2. New microdeletion and microduplication syndromes: A comprehensive review

    Genetics and Molecular Biology, Vol. 37, Núm. 1 SUPPL. 1, pp. 210-219