A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

por Jilani, Houweyda, Hsoumi, Faten, Rejeb, Imen, Elaribi, Yasmina, Hizem, Syrine, Sebai, Molka, Rolfs, Arndt, Benjemaa, Lamia
Publicado 2022

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

por Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia
Publicado 2017

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities

por Al Kaissi, Ali, Ryabykh, Sergey, Nassib, Nabil, Bouchoucha, Sami, Benjemaa, Lamia, Rejeb, Imen, Hizem, Syrine, Kenis, Vladimir, Grill, Franz, Kircher, Susanne Gerit, Shboul, Mohammad, Ben Chehida, Farid
Publicado 2022

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene

por Rejeb, Imen, Jerbi, Mouna, Jilani, Houweyda, Gaied, Hanène, Elaribi, Yasmina, Hizem, Syrine, Aoudia, Raja, Hedri, Hafedh, Zaied, Chiraz, Abid, Salwa, Bacha, Hassen, BenAbdallah, Taieb, BenJemaa, Lamia, Goucha, Rim
Publicado 2021

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

por Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Bouthour, Habib, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, H’mida Ben‐Brahim, Dorra, BenJemaa, Lamia
Publicado 2021