Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

by Rahma Mkaouar, Rahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, Saida Lahbib, Zinet Turki, Sahar Elouej, Yosra Bouyacoub, Maali Somai, Kenneth Mcelreavey, Anu Bashamboo, Sonia Abdelhak, Olfa Messaoud
Published 2021-09-01

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

by Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, Rym Bechraoui, Jihène Marrakchi, Jean-Pierre Hardelin, Malek Louha, Leila Largueche, Salim Ben Yahia, Moncef Kheirallah, Leila Elmatri, Ghazi Besbes, Sonia Abdelhak, Christine Petit
Published 2015-01-01

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

by Mariem Ben Rekaya, Nadia Laroussi, Olfa Messaoud, Mariem Jones, Manel Jerbi, Chokri Naouali, Yosra Bouyacoub, Mariem Chargui, Rym Kefi, Becima Fazaa, Mohamed Samir Boubaker, Hamouda Boussen, Mourad Mokni, Sonia Abdelhak, Mohamed Zghal, Aida Khaled, Houda Yacoub-Youssef
Published 2014-01-01

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

by Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, Nadia Laroussi, Mariem Chargui, Rym Kefi, Laurence Jonard, Imen Dorboz, Jean-Pierre Hardelin, Sihem Belhaj Salah, Jacqueline Levilliers, Dominique Weil, Kenneth McElreavey, Odile Tanguy Boespflug, Ghazi Besbes, Sonia Abdelhak, Christine Petit
Published 2014-01-01