Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

2009

  1. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

    American Journal of Medical Genetics, Part A

2008

  1. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

    Human Mutation, Vol. 29, Núm. 6, pp. 823-831

2007

  1. Screening of the USH1G gene among Spanish patients with usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome

    Ophthalmic Genetics, Vol. 28, Núm. 3, pp. 151-155