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M. Cruz Tapia

5

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

2008 Human Mutation
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Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)

2003 Human Mutation
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De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

2003 American Journal of Medical Genetics Part A
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Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss

2003 Journal of Medical Genetics
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A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

1996 Human Molecular Genetics
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