A potential oral microbiome signature associated with coronary artery disease in Tunisia
Bouzid, Fériel, Gtif, Imen, Alfadhli, Suad, Charfeddine, Salma, Ghorbel, Walid, Abdelhédi, Rania, Benmarzoug, Riadh, Abid, Leila, Bouayed Abdelmoula, Nouha, Elloumi, Inés, Masmoudi, Saber, Rebai, Ahmed, Kharrat, Najla
Published in Bioscience reports (01.07.2022)
Published in Bioscience reports (01.07.2022)
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Journal Article
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population
Souissi, Amal, Ben Said, Mariem, Ben Ayed, Ikhlas, Elloumi, Ines, Bouzid, Amal, Mosrati, Mohamed Ali, Hasnaoui, Mehdi, Belcadhi, Malek, Idriss, Nabil, Kamoun, Hassen, Gharbi, Nourhene, Gibriel, Abdullah A., Tlili, Abdelaziz, Masmoudi, Saber
Published in Journal of advanced research (01.07.2021)
Published in Journal of advanced research (01.07.2021)
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Journal Article
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
Ben Ayed, Ikhlas, Jallouli, Olfa, Murakami, Yoshiko, Souissi, Amal, Mallouli, Salma, Bouzid, Amal, Kamoun, Fatma, Elloumi, Ines, Frikha, Fakher, Tlili, Abdelaziz, Weckhuysen, Sarah, Kinoshita, Taroh, Triki, Chahnez Charfi, Masmoudi, Saber
Published in Frontiers in neurology (09.03.2023)
Published in Frontiers in neurology (09.03.2023)
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Journal Article
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
Said, Mariem Ben, Ayed, Ikhlas Ben, Elloumi, Ines, Hasnaoui, Mehdi, Souissi, Amal, Idriss, Nabil, Aloulou, Hajer, Chabchoub, Imen, Maâlej, Bayen, Driss, Dorra, Masmoudi, Saber
Published in Molecular genetics & genomic medicine (01.02.2022)
Published in Molecular genetics & genomic medicine (01.02.2022)
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Journal Article
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene
Souissi, Amal, Ben Said, Mariem, Frikha, Fakher, Elloumi, Ines, Masmoudi, Saber, Megarbane, Andre
Published in Genetic testing and molecular biomarkers (01.08.2021)
Published in Genetic testing and molecular biomarkers (01.08.2021)
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Journal Article
Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment
Souissi, Amal, Abdelmalek Driss, Dorra, Chakchouk, Imen, Ben Said, Mariem, Ben Ayed, Ikhlas, Mosrati, Mohamed Ali, Elloumi, Ines, Tlili, Abdelaziz, Aifa, Sami, Masmoudi, Saber
Published in Journal of biomolecular structure & dynamics (01.01.2022)
Published in Journal of biomolecular structure & dynamics (01.01.2022)
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Journal Article
SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition
Ben Ayed, Ikhlas, Ouarda, Wael, Frikha, Fakher, Kammoun, Fatma, Souissi, Amal, Ben Said, Mariem, Bouzid, Amal, Elloumi, Ines, Hamdani, Tarak M., Gharbi, Nourhene, Baklouti, Nesrine, Guirat, Manel, Mejdoub, Fatma, Kharrat, Najla, Boujelbene, Imene, Abdelhedi, Fatma, Belguith, Neila, Keskes, Leila, Gibriel, Abdullah Ahmed, Kamoun, Hassen, Triki, Chahnez, Alimi, Adel M., Masmoudi, Saber
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
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Journal Article
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly
Ben Ayed, Ikhlas, Bouchaala, Wafa, Bouzid, Amal, Feki, Wiem, Souissi, Amal, Ben Nsir, Sihem, Ben Said, Mariem, Sammouda, Takwa, Majdoub, Fatma, kharrat, Ines, Kamoun, Fatma, Elloumi, Ines, Kamoun, Hassen, Tlili, Abdelaziz, Masmoudi, Saber, Triki, Chahnez
Published in European journal of medical genetics (01.12.2021)
Published in European journal of medical genetics (01.12.2021)
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Journal Article
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
Ben Ayed, Ikhlas, Jallouli, Olfa, Murakami, Yoshiko, Souissi, Amal, Mallouli, Salma, Bouzid, Amal, Kamoun, Fatma, Elloumi, Ines, Frikha, Fakher, Tlili, Abdelaziz, Weckhuysen, Sarah, Kinoshita, Taroh, Triki, Chahnez Charfi, Masmoudi, Saber
Published in Frontiers in neurology (01.01.2023)
Published in Frontiers in neurology (01.01.2023)
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