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  1. 1
    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 by Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi

    Published 2021-07-01
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  2. 2
    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 by Ikhlas Ben Ayed, Ikhlas Ben Ayed, Olfa Jallouli, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Salma Mallouli, Amal Bouzid, Fatma Kamoun, Fatma Kamoun, Ines Elloumi, Fakher Frikha, Abdelaziz Tlili, Abdelaziz Tlili, Sarah Weckhuysen, Taroh Kinoshita, Taroh Kinoshita, Chahnez Charfi Triki, Chahnez Charfi Triki, Saber Masmoudi

    Published 2023-03-01
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