Lista de obras -

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

artículo científico publicado en 2016

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

scientific article published in 2021

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

Audiologic performance and benefit of cochlear implantation in Usher syndrome type I.

artículo científico publicado en 2006

Cochleovestibular and ocular features in a Dutch DFNA11 family

artículo científico publicado en 2006

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

artículo científico publicado en 2011

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

artículo científico publicado en 2004

Genetic Hearing Loss Affects Cochlear Processing

artículo científico publicado en 2022

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

artículo científico publicado en 2011

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

artículo científico publicado en 2018

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

artículo científico publicado en 2004

Impact of cochlear implantation on the function of the three semicircular canals

artículo científico publicado en 2020

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

artículo científico publicado en 2002

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

artículo científico publicado en 2002

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

artículo científico publicado en 2011

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

artículo científico publicado en 2005

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2 ⬇️

artículo científico publicado el 1 de marzo de 2011

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

artículo científico publicado en 2003

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

artículo científico publicado en 2010

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

artículo científico publicado en 2016

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

artículo científico publicado en 2004

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

artículo científico publicado en 2004

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

artículo científico publicado en 2005

Lista de obras de

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

AON-based degradation of c.151C&gt;T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Audiologic performance and benefit of cochlear implantation in Usher syndrome type I.

Cochleovestibular and ocular features in a Dutch DFNA11 family

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

Genetic Hearing Loss Affects Cochlear Processing

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Impact of cochlear implantation on the function of the three semicircular canals

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2 ⬇️

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9