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  1. 1
    CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements

    CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements von Salem, Ikhlass Hadj, Hsairi, Ines, Mezghani, Najla, Kenoun, Houda, Triki, Chahnez, Fakhfakh, Faiza

    Veröffentlicht in Journal of human genetics

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  2. 2
    A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations

    A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico... von Kharrat, Marwa, Hsairi, Ines, Fendri-Kriaa, Nourhene, Kenoun, Houda, Othmen, Houda Ben, Ben Mahmoud, Afif, Ghorbel, Rania, Abid, Imen, Triki, Chahnez, Fakhfakh, Faiza

    Veröffentlicht in Journal of child neurology

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