Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region

por Bchetnia, Mbarka, Laroussi, Nadia, Youssef, Monia, Charfeddine, Cherine, Ben Brick, Ahlem Sabrine, Boubaker, Mohamed Samir, Mokni, Mourad, Abdelhak, Sonia, Zili, Jameleddine, Benmously, Rym
Publicado 2013

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

por Laroussi, Nadia, Messaoud, Olfa, Chargui, Mariem, Ben Fayala, Chaima, Elahlafi, Abdelaziz, Mokni, Mourad, Bashamboo, Anu, McElreavey, Kenneth, Boubaker, Mohamed Samir, Yacoub Youssef, Houda, Abdelhak, Sonia
Publicado 2017

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital...

por Charfeddine, Cherine, Laroussi, Nadia, Mkaouar, Rahma, Jouini, Raja, Khayat, Olfa, Redissi, Aladin, Mosbah, Amor, Dallali, Hamza, Chedly Debbiche, Achraf, Zaouak, Anissa, Fenniche, Sami, Abdelhak, Sonia, Hammami-Ghorbel, Houda
Publicado 2021

A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

por Ben Rekaya, Mariem, Laroussi, Nadia, Messaoud, Olfa, Jones, Mariem, Jerbi, Manel, Naouali, Chokri, Bouyacoub, Yosra, Chargui, Mariem, Kefi, Rym, Fazaa, Becima, Boubaker, Mohamed Samir, Boussen, Hamouda, Mokni, Mourad, Abdelhak, Sonia, Zghal, Mohamed, Khaled, Aida, Yacoub-Youssef, Houda
Publicado 2014

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

por Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Louha, Malek, Bouyacoub, Yosra, Laroussi, Nadia, Chargui, Mariem, Kefi, Rym, Jonard, Laurence, Dorboz, Imen, Hardelin, Jean-Pierre, Salah, Sihem Belhaj, Levilliers, Jacqueline, Weil, Dominique, McElreavey, Kenneth, Boespflug, Odile Tanguy, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine
Publicado 2014