Mariem Ben Said

Sfax, Tunisia

Last Updated: 09/26/2026

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Found 17 publications

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.

Journal: Scientific reports

Published: February 26, 2024

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.

Journal: Journal of neurogenetics

Published: December 18, 2023

Functional analysis of MMR gene VUS from potential Lynch syndrome patients.

Functional analysis of MMR gene VUS from potential Lynch syndrome patients.

Journal: PloS one

Published: November 03, 2023

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.

Journal: Epilepsia open

Published: August 04, 2023

A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.

A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: February 24, 2023

First report of Tunisian patients with CDKL5-related encephalopathy.

First report of Tunisian patients with CDKL5-related encephalopathy.

Journal: Epilepsia open

Published: February 06, 2023

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.

Journal: PloS one

Published: July 18, 2022

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Journal: Journal of biomolecular structure & dynamics

Published: August 23, 2021

Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.

Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.

Journal: Genetic testing and molecular biomarkers

Published: August 18, 2021

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.

Journal: European journal of medical genetics

Published: March 20, 2021

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Journal: Molecular genetics & genomic medicine

Published: January 25, 2021

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Journal: Journal of advanced research

Published: October 24, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026