Publications in collaboration with researchers from 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