Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical stud...

por Mosrati, Mohamed Ali, Fadhlaoui‐Zid, Karima, Benammar‐Elgaaied, Amel, Gibriel, Abdullah Ahmed, Ben Said, Mariem, Masmoudi, Saber
Publicado 2021

A Tunisian patient with CLCN2‐related leukoencephalopathy

por Ben Mohamed, Dina, Saied, Zacharia, Ben Sassi, Samia, Ben Said, Mariem, Nabli, Fatma, Achouri, Afef, Jeridi, Cyrine, Masmoudi, Saber, Amouri, Rim
Publicado 2022

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer

por Mahdouani, Marwa, Ben Ahmed, Slim, Hmila, Fahmi, Rais, Henda, Ben Sghaier, Rihab, Saad, Hanene, Ben Said, Mariem, Masmoudi, Saber, Hmida, Dorra, Brieger, Angela, Zeuzem, Stefan, Saad, Ali, Gribaa, Moez, Plotz, Guido
Publicado 2022

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

por 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
Publicado 2021