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List of works by Klemens Frei

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

scientific article published in February 2010

A Novel Connexin 26 Mutation Associated with Autosomal Recessive Sensorineural Deafness

scientific article published on 01 January 2004

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment

scientific article published on 17 November 2016

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

scientific article published in 2022

A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease

scientific article

Characterization of NKIP: a novel, Na+/K+-ATPase interacting protein mediates neural differentiation and apoptosis.

scientific article published on 24 November 2007

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

scientific article published in July 2002

Delayed auditory pathway maturation and prematurity

scientific article published on 20 November 2014

Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family

scientific article published on 26 February 2014

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study

scientific article published in June 2013

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss

scientific article

The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria

scientific article published on 2 August 2014

The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria

scientific article published on 9 November 2016

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation

scientific article published on 18 August 2017

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