Publicaciones en colaboración con investigadores/as de Centro de Regulación Genómica (2)

2020

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225

2007

  1. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry

    Annals of Human Genetics, Vol. 71, Núm. 2, pp. 194-201