Publicaciones en las que colabora con Magdalena Beneyto (7)

2007

  1. MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

    Journal of medical genetics, Vol. 44, Núm. 3

  2. 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

2006

  1. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

    Journal of medical genetics, Vol. 43, Núm. 11

  2. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

    Human mutation, Vol. 27, Núm. 3, pp. 290-291

2004

  1. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments

    European Journal of Human Genetics, Vol. 12, Núm. 5, pp. 407-410

1999

  1. Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors

    Anales otorrinolaringológicos ibero-americanos, Vol. 26, Núm. 1, pp. 83-95

1998

  1. Linkage analysis in Usher syndrome type I (USH1) families from Spain

    Journal of Medical Genetics, Vol. 35, Núm. 5, pp. 391-398