未登录 Genome Tunisia Project: paving the way for precision medicine in North Africa 基因组突尼斯项目: 为北非的精准医学铺平道路 Hamdi, Yosr; Trabelsi, Mediha; Ghedira, Kais; Boujemaa, Maroua; Ben Ayed, Ikhlas; Charfeddine, Cherine; Souissi, Amal; Rejeb, Imen; Kammoun Rebai, Wafa; Hkimi, Chaima; Neifar, Fadoua; Jandoubi, Nouha; Mkaouar, Rahma; Chaouch, Melek; Bennour, Ayda; Kamoun, Selim; Chaker Masmoudi, Hend; Abid, Nabil; Mezghani Khemakhem, Maha; Masmoudi, Saber; Saad, Ali; Benjemaa, Lamia; Benkahla, Alia; Boubaker, Samir; Mrad, Ridha; Kamoun, Hassen; Abdelhak, Sonia; Gribaa, Moez; Belguith, Neila; Kharrat, Najla; Hmida, Dorra; Rebai, Ahmed 分享 收藏
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report Akrout, Firas; Achour, Ahlem; Tops, Carli M. J.; Gallon, Richard; Meddeb, Rym; Achoura, Sameh; Ben Rekaya, Mariem; Hamdeni, Emna; Rammeh, Soumaya; Chkili, Ridha; Mansouri, Nada; Belguith, Neila; Mrad, Ridha 分享 收藏
Disease burden and management of Crigler-Najjar syndrome: Report of a world registry Aronson, Sem J.; Junge, Norman; Trabelsi, Mediha; Kelmemi, Wided; Hubert, Aurelie; Brigatti, Karlla W.; Fox, Michael D.; de Knegt, Robert J.; Escher, Johanna C.; Ginocchio, Virginia M.; Iorio, Raffaele; Zhu, Yan; Ozcay, Figen; Rahim, Fakher; El-Shabrawi, Mortada H. F.; Shteyer, Eyal; Di Giorgio, Angelo; D'Antiga, Lorenzo; Mingozzi, Federico; Brunetti-Pierri, Nicola; Strauss, Kevin A.; Labrune, Philippe; Mrad, Ridha; Baumann, Ulrich; Beuers, Ulrich; Bosma, Piter J. 分享 收藏
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations Cockayne综合征患者和携带相同CSA突变的兄弟姐妹的异质性临床特征 Chikhaoui, Asma; Kraoua, Ichraf; Calmels, Nadege; Bouchoucha, Sami; Obringer, Cathy; Zayoud, Khouloud; Montagne, Benjamin; M'rad, Ridha; Abdelhak, Sonia; Laugel, Vincent; Ricchetti, Miria; Turki, Ilhem; Yacoub-Youssef, Houda 分享 收藏
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Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers 突尼斯11种新型BRCA突变的鉴定: 对BRCA相关癌症临床管理的影响 Hamdi, Yosr; Mighri, Najah; Boujemaa, Maroua; Mejri, Nesrine; Ben Nasr, Sonia; Ben Rekaya, Mariem; Messaoud, Olfa; Bouaziz, Hanen; Berrazega, Yosra; Rachdi, Haifa; Jaidane, Olfa; Daoud, Nouha; Zribi, Aref; Ayari, Jihene; El Benna, Houda; Labidi, Soumaya; Ben Hassouna, Jamel; Haddaoui, Abderazzek; Rahal, Khaled; Benna, Farouk; Mrad, Ridha; Ben Ahmed, Slim; Boussen, Hamouda; Boubaker, Samir; Abdelhak, Sonia 分享 收藏
A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci 突尼斯人群的全基因组SNP基因分型研究: 关于常见乳腺癌风险位点子集的特定报告 Hamdi, Yosr; Ben Rekaya, Mariem; Shan Jingxuan; Nagara, Majdi; Messaoud, Olfa; Elgaaied, Amel Benammar; Mrad, Ridha; Chouchane, Lotfi; Boubaker, Mohamed Samir; Abdelhak, Sonia; Boussen, Hamouda; Romdhane, Lilia 分享 收藏
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Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases Hamdi, Yosr; Boujemaa, Maroua; Ben Rekaya, Mariem; Ben Hamda, Cherif; Mighri, Najah; El Benna, Houda; Mejri, Nesrine; Labidi, Soumaya; Daoud, Nouha; Naouali, Chokri; Messaoud, Olfa; Chargui, Mariem; Ghedira, Kais; Boubaker, Mohamed Samir; Mrad, Ridha; Boussen, Hamouda; Abdelhak, Sonia 分享 收藏
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Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia 突尼斯着色性干皮病C型互补组的临床，家谱和分子研究 Jerbi, M.; Ben Rekaya, M.; Naouali, C.; Jones, M.; Messaoud, O.; Tounsi, H.; Nagara, M.; Chargui, M.; Kefi, R.; Boussen, H.; Mokni, M.; Mrad, R.; Boubaker, M. S.; Abdelhak, S.; Khaled, A.; Zghal, M.; Yacoub-Youssef, H. 分享 收藏
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Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations Ouragini, Houyem; Cherif, Faika; Ben Brick, Sabrine Ahlem; Nouira, Sonia; Floriddia, Giovanna; Pascucci, Monica; Kefi, Rym; Daoud, Wafa; Mahdhaoui, Nabiha; Kassar, Selma; Mrad, Ridha; Kamoun, Mohammed Ridha; Ben Osman-Dhahri, Amel; Denguezli, Mohamed; Monastiri, Kamel; Seboui, Hassen; Mokni, Mourad; Boubaker, Samir; Castiglia, Daniele; Abdelhak, Sonia 分享 收藏
The Tunisian population history through the Crigler-Najjar type I syndrome 通过crigler-najjar I型综合征的突尼斯人口历史 Petit, Francois M.; Bezieau, Stephane; Gajdos, Vincent; Parisot, Frederic; Scoul, Catherine; Capel, Liliane; Stozinic, Volodia; Khrouf, Naima; M'Rad, Ridha; Koshy, Abraham; Mollet-Boudjemline, Alix; Francoual, Jeanne; Labrune, Philippe 分享 收藏
Screening of the eight BBS genes in Tunisian families: No evidence of triallelism Smaoui, Nizar; Chaabouni, Myriam; Sergeev, Yuri V.; Kallel, Habib; Li, Shouling; Mahfoudh, Neila; Maazoul, Faouzi; Kammoun, Hassen; Gandoura, Najoua; Bouaziz, Asma; Nouiri, Ezzedine; M'Rad, Ridha; Chaabouni, Habiba; Hejtmancik, J. Fielding 分享 收藏
Junctional congenital bullous epidermolysis, cutaneous aplasia and pyloric atresia Cherif, A; Cherif, F; Siala-Guagi, F; M'Rad, R; Raghi, H; Boubaker, S; Chaabouni, H; Marrakchi, Z; Boukef-Largueche, S 分享 收藏
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