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List of works by Mariem Ben Saïd

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

scientific article

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

scientific article

A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family ⬇️

scientific article published on July 13, 2011

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

scientific article published on 08 January 2022

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.

scientific article

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

scientific article

Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome

scientific article

NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

scientific article published on 02 January 2015

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

scientific article

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome ⬇️

scientific article published on March 18, 2012

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

scientific article published on 25 June 2016

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