SM
Saber Masmoudi

Publications (7)

Inositol hexakisphosphate reduces bone mineralization and affects body axis formation
Article scientifique · 2025
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy
Article scientifique · 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
Article scientifique · 2023
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer
Article scientifique · 2022
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis
Article scientifique · 2020
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis
Article scientifique · 2019
CDH23 Methylation Status and Presbycusis Risk in Elderly Women
Article scientifique · 2018

Domaines principaux

Sciences de la vie et biotechnologies4 Sciences de la santé2 Sciences agricoles, animales et alimentaires1

Statistiques

Consultations18
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