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List of works by Francisco J del Castillo

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

scientific article (publication date: 24 January 2002)

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

scientific article (publication date: 2013)

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

scientific article published in December 2003

Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins

scientific article

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

scientific article

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

scientific article published on 22 December 2017

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel

scientific article published on 01 December 2019

Genetics of isolated auditory neuropathies

scientific article published on January 2012

Hearing is normal without connexin30

scientific article

Is granulomatous mastitis a localized form of hidradenitis suppurativa?

scientific article published on 15 June 2009

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

scientific article

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

scientific article

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

scientific article

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment

scientific article published on June 2011

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