Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital... by Cherine Charfeddine, Nadia Laroussi, Rahma Mkaouar, Raja Jouini, Olfa Khayat, Aladin Redissi, Amor Mosbah, Hamza Dallali, Achraf Chedly Debbiche, Anissa Zaouak, Sami Fenniche, Sonia Abdelhak, Houda Hammami-Ghorbel

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Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved by Nessrine Mezzi, Olfa Messaoud, Rahma Mkaouar, Nadia Zitouna, Safa Romdhane, Ghaith Abdessalem, Cherine Charfeddine, Faouzi Maazoul, Ines Ouerteni, Yosr Hamdi, Anissa Zaouak, Ridha Mrad, Sonia Abdelhak, Lilia Romdhane

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Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families by Maroua Boujemaa, Fatma Nouira, Nouha Jandoubi, Nesrine Mejri, Nesrine Mejri, Hanen Bouaziz, Hanen Bouaziz, Cherine Charfeddine, Cherine Charfeddine, Sonia Ben Nasr, Sonia Ben Nasr, Soumaya Labidi, Soumaya Labidi, Houda El Benna, Houda El Benna, Yosra Berrazega, Haifa Rachdi, Nouha Daoud, Farouk Benna, Abderrazek Haddaoui, Sonia Abdelhak, Mohamed Samir Boubaker, Mohamed Samir Boubaker, Hamouda Boussen, Hamouda Boussen, Yosr Hamdi, Yosr Hamdi

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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment. by Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, Imen Chelly, Hela Boudabbous, Hamza Dallali, Crystel Bonnet, Meriem Hechmi, Soumeya Bekri, Nadia Zitouna, Lotfi Zekri, Amel Tounsi, Rym Kefi, Jihene Marrakchi, Olfa Messaoud, Ichraf Kraoua, Sonia Maalej, Ilhem Turki Ben Youssef, Ahlem Ben Hmid, Fabrice Giraudet, Sami Bouchoucha, Neji Tebib, Ghazi Besbes, Christine Petit, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi

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Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health by Rahma Mkaouar, Zied Riahi, Jihene Marrakchi, Jihene Marrakchi, Nessrine Mezzi, Nessrine Mezzi, Lilia Romdhane, Lilia Romdhane, Maroua Boujemaa, Hamza Dallali, Hamza Dallali, Marwa Sayeb, Saida Lahbib, Hager Jaouadi, Hager Jaouadi, Hela Boudabbous, Hela Boudabbous, Hela Boudabbous, Lotfi Zekri, Lotfi Zekri, Mariem Chargui, Olfa Messaoud, Meriem Elyounsi, Meriem Elyounsi, Ichraf Kraoua, Ichraf Kraoua, Anissa Zaouak, Ilhem Turki, Ilhem Turki, Mourad Mokni, Sophie Boucher, Sophie Boucher, Christine Petit, Christine Petit, Fabrice Giraudet, Fabrice Giraudet, Chiraz Mbarek, Ghazi Besbes, Soumeyya Halayem, Soumeyya Halayem, Rim Zainine, Rim Zainine, Hamida Turki, Amel Tounsi, Crystel Bonnet, Ridha Mrad, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi, Mediha Trabelsi, Cherine Charfeddine

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