Publications by authors named "Ines Elloumi"

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Case report: Functional analysis of the p.Arg507Trp variant of the gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Ikhlas Ben Ayed, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Ines Elloumi

Front Neurol· March 2023

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Molecular insights into kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.
Amal Souissi, Dorra Abdelmalek Driss, Imen Chakchouk, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi

J Biomol Struct Dyn· December 2022

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A potential oral microbiome signature associated with coronary artery disease in Tunisia.
Fériel Bouzid, Imen Gtif, Suad Alfadhli, Salma Charfeddine, Walid Ghorbel, Inés Elloumi

Biosci Rep· July 2022

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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.
Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Mehdi Hasnaoui, Amal Souissi

Mol Genet Genomic Med· February 2022

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Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Ikhlas Ben Ayed, Wafa Bouchaala, Amal Bouzid, Wiem Feki, Amal Souissi, Ines Elloumi

Eur J Med Genet· December 2021

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Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the gene.
Amal Souissi, Mariem Ben Said, Fakher Frikha, Ines Elloumi, Saber Masmoudi

Genet Test Mol Biomarkers· August 2021

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Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.
Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid

J Adv Res· July 2021

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SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Ikhlas Ben Ayed, Wael Ouarda, Fakher Frikha, Fatma Kammoun, Amal Souissi, Ines Elloumi

Am J Med Genet A· April 2021

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