Saber Masmoudi

Sfax, Tunisia

Last Updated: 09/26/2026

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Found 56 publications

ACTN3 R577X (rs1815739) Polymorphism and Athlete Status: An Additional Case-Control Association Study and Meta-Analysis.

ACTN3 R577X (rs1815739) Polymorphism and Athlete Status: An Additional Case-Control Association Study and Meta-Analysis.

Journal: Journal of strength and conditioning research

Published: August 22, 2025

Biological Evaluation and Molecular Docking Study of Ferrociphenol as an Antimelanogenic Agent.

Biological Evaluation and Molecular Docking Study of Ferrociphenol as an Antimelanogenic Agent.

Journal: Biochemistry research international

Published: August 20, 2025

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

Short-term effects of various non-steroidal anti-inflammatory drugs (NSAIDs) on Danio rerio embryos.

Short-term effects of various non-steroidal anti-inflammatory drugs (NSAIDs) on Danio rerio embryos.

Journal: MethodsX

Published: April 06, 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

Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.

Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.

Journal: Frontiers in neurology

Published: December 20, 2022

Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.

Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.

Journal: Journal of human genetics

Published: December 15, 2022

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance.

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance.

Journal: Science (New York, N.Y.)

Published: September 15, 2022

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

Showing 1-12 of 56

Last Updated: 09/26/2026