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Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation Moalla, Mariam; Safi, Wajdi; Mansour, Maab Babiker; Kacem, Mohamed Hadj; Mahfood, Mona; Abid, Mohamed; Kammoun, Thouraya; Hachicha, Mongia; Mnif-Feki, Mouna; Kacem, Faten Hadj; Kacem, Hassen Hadj 分享 收藏
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis Stoupa, Athanasia; Al Hage Chehade, Ghada; Chaabane, Rim; Kariyawasam, Dulanjalee; Szinnai, Gabor; Hanein, Sylvain; Bole-Feysot, Christine; Fourrage, Cecile; Nitschke, Patrick; Thalassinos, Caroline; Pinto, Graziella; Mnif, Mouna; Baron, Sabine; De Kerdanet, Marc; Reynaud, Rachel; Barat, Pascal; Hachicha, Mongia; Belguith, Neila; Polak, Michel; Carre, Aurore 分享 收藏
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele Mani, Rahma; Belkacem, Sabrina; Soua, Zohra; Chantot, Sandra; Montantin, Guy; Tissier, Sylvie; Copin, Bruno; Bouguila, Jihene; Le Gouard, Nicolas Rive; Boughamoura, Lamia; Ben Ameur, Salma; Hachicha, Mongia; Boussoffara, Raoudha; Boussetta, Khadija; Hammouda, Samia; Bedoui, Abir; Besbes, Habib; Meddeb, Seif; Chraeit, Karima; Khlifa, Monia; Escudier, Estelle; Amselem, Serge; Mabrouk, Imed; Legendre, Marie 分享 收藏
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion Felhi, Rahma; Sfaihi, Lamia; Charif, Majida; Desquiret-Dumas, Valerie; Bris, Celine; Goudenege, David; Ammar-Keskes, Leila; Hachicha, Mongia; Bonneau, Dominique; Procaccio, Vincent; Reynier, Pascal; Amati-Bonneau, Patrizia; Lenaers, Guy; Fakhfakh, Faiza 分享 收藏
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations Stoupa, Athanasia; Chaabane, Rim; Gueriouz, Manelle; Raynaud-Ravni, Catherine; Nitschke, Patrick; Bole-Feysot, Christine; Mnif, Mouna; Ammar Keskes, Leila; Hachicha, Mongia; Belguith, Neila; Polak, Michel; Carre, Aurore 分享 收藏
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression Agrebi, Nourhen; Ben-Mansour, Lamia Sfaihi; Medhaffar, Moez; Hadiji, Sondes; Fedhila, Faten; Ben-Ali, Meriem; Mekki, Najla; Hachicha, Mongia; Barsaoui, Sihem; Barbouche, Mohamed-Ridha; Ben-Mustapha, Imen 分享 收藏
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Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate 来自高IgM 2患者的活化诱导的胞苷脱氨酶突变体 (AID-His130Pro) 保留了SHM人工底物的诱变活性 Ouadani, Hanen; Ben-Mustapha, Imen; Ben-ali, Meriem; Largueche, Beya; Jovanic, Tihana; Garcia, Sylvie; Arcangioli, Benoit; Elloumi-Zghal, Houda; Fathallah, Dahmani; Hachicha, Mongia; Masmoudi, Hatem; Rougeon, Francois; Barbouche, Mohamed-Ridha 分享 收藏
Unusual association of turner syndrome and hypopituitarism in a Tunisian family Bougacha-Elleuch, N.; Elleuch, M.; Charfi, N.; Mnif, F.; Belghith, N.; Abdelhedi, F.; Kammoun, H.; Hachicha, M.; Mnif, M.; Abid, M. 分享 收藏
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect (vol 174, pg 1491, 2015) Bougacha-Elleuch, Noura; Charfi, Nadia; Miled, Nabil; Bouhajja, Houda; Belguith, Neila; Mnif, Mouna; Jorge, Paula; Chikhrouhou, Nessrine; Ayadi, Hammadi; Hachicha, Mongia; Abid, Mohamed 分享 收藏
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012) Mellouli, Fethi; Ben Mustapha, Imen; Ben Khaled, Monia; Besbes, Habib; Ouederni, Monia; Mekki, Najla; Ben Ali, Meriem; Largueche, Beya; Hachicha, Mongia; Sfar, Tahar; Gueddiche, Neji; Barsaoui, Siheme; Sammoud, Azza; Boussetta, Khadija; Ben Becher, Saida; Meherzi, Ahmed; Guandoura, Najoua; Boughammoura, Lamia; Harbi, Abdelaziz; Amri, Fethi; Bayoudh, Fethi; Ben Jaballah, Najla; Tebib, Neji; Bouaziz, Asma; Mahfoudh, Abdelmajid; Aloulou, Hajer; Ben Mansour, Lamia; Chabchoub, Imen; Boussoffara, Raoudha; Chemli, Jalel; Bouguila, Jihene; Hassayoun, Saida; Hammami, Saber; Habboul, Zakia; Hamzaoui, Agnes; Ammar, Jamel; Barbouche, Mohamed-Ridha; Bejaoui, Mohamed 分享 收藏
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect Bougacha-Elleuch, Noura; Charfi, Nadia; Miled, Nabil; Bouhajja, Houda; Belguith, Neila; Mnif, Mouna; Jaurge, Paula; Chikhrouhou, Nessrine; Ayadi, Hammadi; Hachicha, Mongia; Abid, Mohamed 分享 收藏
Association of TCR/CD3, PTPN22, CD28 and ZAP70 gene polymorphisms with type 1 diabetes risk in Tunisian population: Family based association study Ferjeni, Zouidi; Bouzid, D.; Fourati, H.; Stayoussef, M.; Abida, O.; Kammoun, T.; Hachicha, M.; Penha-Goncalves, C.; Masmoudi, H. 分享 收藏
A Novel Nonsense Mutation in HSD17B3 Gene in a Tunisian Patient with Sexual Ambiguity Ben Rhouma, Bochra; Belguith, Neila; Mnif, Mouna Feki; Kamoun, Thouraya; Charfi, Nadia; Kamoun, Mahdi; Abdelhedi, Fatma; Hachicha, Mongia; Kamoun, Hassen; Abid, Mohamed; Fakhfakh, Faiza 分享 收藏
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Evolution of group A rotavirus strains circulating in Tunisia over a 13-years period (1995-2007) Fodha, I.; Chouikha, A.; Fredj, M. Ben Haj; Ardhaoui, M.; Mathlouthi, I.; Mastouri, M.; Messaadi, F.; Sfar, T.; Hachicha, M.; Bouaaziz, A.; Amri, F.; Bousnina, B.; Zribi, M.; Boujaafar, N.; Trabelsi, A.; Steele, A. D. 分享 收藏
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