Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (4)

2017

  1. Audiological findings in Charcot–Marie–Tooth disease type 4C

    Journal of International Advanced Otology, Vol. 13, Núm. 1, pp. 93-99

2014

  1. Vestibular impairment in Charcot-Marie-Tooth disease type 4C

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 85, Núm. 7, pp. 824-827

2010

  1. Novel mutations in the USH1C gene in Usher syndrome patients

    Molecular Vision, Vol. 16, pp. 2948-2954

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