Publications
Knowledge generated at IrsiCaixa is shared with the scientific community through the publication of articles in high impact scientific journals.
![Imatge de Publicacions](/sites/default/files/styles/3_1_small/public/2022-11/Portada_publicacions-petita_0.jpg?h=c6980913&itok=oZMso2V6)
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.