Hospital Ramón y Cajal -ko ikertzaileekin lankidetzan egindako argitalpenak (6)

2023

  1. Presbycusis and balance disorders in the elderly. Bibliographical review of ethiopathogenic aspects, consequences on quality of life and positive effects of its treatment

    Acta Otorrinolaringologica Espanola, Vol. 74, Núm. 2, pp. 124-132

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. Auditory neuropathy caused by the otoferlin gene mutation

    Genes, Hearing, and Deafness: From Molecular Biology to Clinical Practice (CRC Press), pp. 263-268

2003

  1. Auditory Neuropathy in Patients Carrying Mutations in the Otoferlin Gene (OTOF)

    Human Mutation, Vol. 22, Núm. 6, pp. 451-456

2002

  1. Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.

    Journal of medical genetics, Vol. 39, Núm. 12