Publicaciones
El conocimiento generado en IrsiCaixa se comparte con la comunidad científica a través de la publicación de artículos en revistas científicas de alto impacto.
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.