Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
Mkaouar, Rahma, Riahi, Zied, Charfeddine, Cherine, Chelly, Imen, Boudabbous, Hela, Dallali, Hamza, Bonnet, Crystel, Hechmi, Meriem, Bekri, Soumeya, Zitouna, Nadia, Zekri, Lotfi, Tounsi, Amel, Kefi, Rym, Marrakchi, Jihene, Messaoud, Olfa, Kraoua, Ichraf, Maalej, Sonia, Turki Ben Youssef, Ilhem, Ben Hmid, Ahlem, Giraudet, Fabrice, Bouchoucha, Sami, Tebib, Neji, Besbes, Ghazi, Petit, Christine, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha
Published in PloS one (06.10.2021)
Published in PloS one (06.10.2021)
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Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Mkaouar, Rahma, Riahi, Zied, Marrakchi, Jihene, Mezzi, Nessrine, Romdhane, Lilia, Boujemaa, Maroua, Dallali, Hamza, Sayeb, Marwa, Lahbib, Saida, Jaouadi, Hajer, Boudabbous, Hela, Zekri, Lotfi, Chargui, Mariem, Messaoud, Olfa, Elyounsi, Meriem, Kraoua, Ichraf, Zaouak, Anissa, Turki, Ilhem, Mokni, Mourad, Boucher, Sophie, Petit, Christine, Giraudet, Fabrice, Mbarek, Chiraz, Besbes, Ghazi, Halayem, Soumeyya, Zainine, Rim, Turki, Hamida, Tounsi, Amel, Bonnet, CRYSTEL, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha, Charfeddine, Cherine
Published in Frontiers in genetics (25.06.2024)
Published in Frontiers in genetics (25.06.2024)
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Journal Article
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Mkaouar, Rahma, Riahi, Zied, Marrakchi, Jihene, Mezzi, Nessrine, Romdhane, Lilia, Boujemaa, Maroua, Dallali, Hamza, Sayeb, Marwa, Lahbib, Saida, Jaouadi, Hager, Boudabbous, Hela, Zekri, Lotfi, Chargui, Mariem, Messaoud, Olfa, Elyounsi, Meriem, Kraoua, Ichraf, Zaouak, Anissa, Turki, Ilhem, Mokni, Mourad, Boucher, Sophie, Petit, Christine, Giraudet, Fabrice, Mbarek, Chiraz, Besbes, Ghazi, Halayem, Soumeyya, Zainine, Rim, Turki, Hamida, Tounsi, Amel, Bonnet, Crystel, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha, Charfeddine, Cherine
Published in Frontiers in genetics (22.04.2024)
Published in Frontiers in genetics (22.04.2024)
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Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease
Chabchoub, Imen, Boudabbous, Hela, Maaloul, Ines, Ben Abdelaziz, Rim, Ben Chehida, Amel, Ayadi, Lobna, Kamoun, Thouraya, Tebib, Neji, Boudaouara, Tahia, Bekri, Soumeya, Hachicha, Mongia
Published in Journal of pediatric hematology/oncology (01.05.2020)
Published in Journal of pediatric hematology/oncology (01.05.2020)
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A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome
Ben Abdelaziz, Rim, Ben Chehida, Amel, Azzouz, Hatem, Boudabbous, Hela, Lascols, Olivier, Ben Turkia, Hadhami, Tebib, Néji
Published in European journal of medical genetics (01.01.2016)
Published in European journal of medical genetics (01.01.2016)
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Journal Article
Complications rénales dans la glycogénose de type 1 : quelles implications pratiques ?
Ben Chehida, Amel, Bensmaïl, Takoua, Ben Rehouma, Faten, Ben Abdelaziz, Rim, Azzouz, Hatem, Boudabbous, Hela, Slim Abdelmoula, Mohamed, Abdelhak, Sonia, Kaabachi, Naziha, Ben Turkia, Hadhami, Tebib, Néji
Published in Néphrologie & thérapeutique (01.07.2015)
Published in Néphrologie & thérapeutique (01.07.2015)
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Renal involvement in glycogen storage disease type 1: Practical issues
Ben Chehida, Amel, Bensmaïl, Takoua, Ben Rehouma, Faten, Ben Abdelaziz, Rim, Azzouz, Hatem, Boudabbous, Hela, Slim Abdelmoula, Mohamed, Abdelhak, Sonia, Kaabachi, Naziha, Ben Turkia, Hadhami, Tebib, Néji
Published in Néphrologie & thérapeutique (01.07.2015)
Published in Néphrologie & thérapeutique (01.07.2015)
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Journal Article
Complications rénales dans la glycogénose de type 1 : quelles implications pratiques ?
Ben Chehida, Amel, Bensmaïl, Takoua, Ben Rehouma, Faten, Ben Abdelaziz, Rim, Azzouz, Hatem, Boudabbous, Hela, Slim Abdelmoula, Mohamed, Abdelhak, Sonia, Kaabachi, Naziha, Ben Turkia, Hadhami, Tebib, Néji
Published in Néphrologie & thérapeutique (01.07.2015)
Published in Néphrologie & thérapeutique (01.07.2015)
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