Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment
Khabou, Boudour, Kallabi, Fakhri, Abdelaziz, Rim Ben, Maaloul, Ines, Aloulou, Hajer, Chehida, Amel ben, Kammoun, Thouraya, Barbu, Veronique, Boudawara, Tahya Sellami, Fakhfakh, Faiza, Khemakhem, Bassem, Sahnoun, Olfa Siala
Published in Annals of human genetics (01.05.2024)
Published in Annals of human genetics (01.05.2024)
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Journal Article
Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria
Abdelaziz, Rim Ben, Chehida, Amel Ben, Chakchouk, Henda Kachouri, Messaoud, Sana Ben, Hajji, Hela, Boudabous, Hela, Ferchichi, Maherzia, Azzouz, Hatem, Tebib, Néji
Published in Journal of developmental and physical disabilities (01.12.2019)
Published in Journal of developmental and physical disabilities (01.12.2019)
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Journal Article
Renal Involvement in 2 Siblings With Cockayne Syndrome
Ben Chehida, Amel, Ghali, Narjess, Ben Abdelaziz, Rim, Ben Moussa, Fatma, Tebib, Neji
Published in Iranian journal of kidney diseases (01.05.2017)
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Published in Iranian journal of kidney diseases (01.05.2017)
Journal Article
Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
Ben Abdelaziz, Rim, Hafsi, Habiba, Hajji, Hela, Boudabous, Hela, Ben Chehida, Amel, Mrabet, Ali, Boussetta, Khadija, Barsaoui, Sihem, Sammoud, Azza, Hamzaoui, Mourad, Azzouz, Hatem, Tebib, Nnji
Published in BMC pediatrics (19.12.2017)
Published in BMC pediatrics (19.12.2017)
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Journal Article
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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Journal Article
Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)
Ben Abdelaziz, Rim, Ben Chehida, Amel, Kachouri, Henda, Ben Messaoud, Sana, Ferchichi, Maherzia, Ben Ameur, Zeineb, Sassi, Yosra, Abdelmoula, Mohamed Slim, Azzouz, Hatem, Tebib, Néji
Published in Journal of Pediatric Endocrinology & Metabolism (28.07.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (28.07.2020)
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Journal Article
High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness
Ben Chehida, Amel, Ben Messaoud, Sana, Ben Abdelaziz, Rim, Boudabous, Hela, Oujra, Mariem, Ben Turkia, Hadhami, Abdelmoula, Mohamed Slim, Azzouz, Hatem, Hakim, Kaothar, Tebib, Neji
Published in Journal of tropical pediatrics (1980) (01.06.2019)
Published in Journal of tropical pediatrics (1980) (01.06.2019)
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Journal Article
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner–Hanhart Syndrome
Bouyacoub, Yosra, Zribi, Hela, Azzouz, Hatem, Nasrallah, Fehmi, Abdelaziz, Rim Ben, Kacem, Monia, Rekaya, Ben, Messaoud, Olfa, Romdhane, Lilia, Charfeddine, Cherine, Bouziri, Mustapha, Bouziri, Sonia, Tebib, Neji, Mokni, Mourad, Kaabachi, Naziha, Boubaker, Samir, Abdelhak, Sonia
Published in Gene (15.10.2013)
Published in Gene (15.10.2013)
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Journal Article
Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
Ben Abdelaziz, Rim, Hafsi, Habiba, Hajji, Hela, Boudabous, Hela, Ben Chehida, Amel, Mrabet, Ali, Boussetta, Khadija, Barsaoui, Sihem, Sammoud, Azza, Hamzaoui, Mourad, Azzouz, Hatem, Tebib, Néji
Published in BMC pediatrics (24.09.2018)
Published in BMC pediatrics (24.09.2018)
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Journal Article
Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study
Ben Abdelaziz, Rim, Tangour, Nizar, Ben Chehida, Amel, Haj Taieb, Sameh, Feki, Moncef, Azzouz, Hatem, Tebib, Neji
Published in Journal of Pediatric Endocrinology & Metabolism (27.08.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (27.08.2020)
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Journal Article
Diagnosis of Mediterranean visceral leishmaniasis by detection of Leishmania-related antigen in urine and oral fluid samples
Ben-Abid, Meriem, Galaï, Yousr, Habboul, Zakia, Ben-Abdelaziz, Rim, Ben-Sghaier, Ines, Aoun, Karim, Bouratbine, Aïda
Published in Acta tropica (01.03.2017)
Published in Acta tropica (01.03.2017)
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Journal Article
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients
Ben Chehida, Amel, Ben Messaoud, Sana, Ben Abdelaziz, Rim, Ben Ali, Nadia, Boudabous, Hela, Ben Abdelaziz, Ines, Ben Ameur, Zeineb, Sassi, Yosra, Kaabachi, Neziha, Abdelhak, Sonia, Abdelmoula, Mohamed Slim, Fradj, Mohamed, Azzouz, Hatem, Tebib, Neji
Published in Neuropediatrics (01.02.2019)
Published in Neuropediatrics (01.02.2019)
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Journal Article
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients
Ben Chehida, Amel, Ben Messaoud, Sana, Ben Abdelaziz, Rim, Mansouri, Hajer, Boudabous, Hela, Hakim, Kaouthar, Ben Ali, Nadia, Ben Ameur, Zeineb, Sassi, Yosra, Kaabachi, Neziha, Abdelhak, Sonia, Abdelmoula, Mohamed Slim, Azzouz, Hatem, Tebib, Neji
Published in Journal of Pediatric Endocrinology & Metabolism (25.09.2018)
Published in Journal of Pediatric Endocrinology & Metabolism (25.09.2018)
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Journal Article
Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques : Caractéristiques cliniques d’une série pédiatrique tunisienne
Jbebli, Elhem, Jbeli, Yosra, Amdouni, Rym, Ben Abdelaziz, Rim, Boudabous, Héla, Ben Chehida, Amel, Abdelmoula, Slim
Published in Tunisie Medicale (12.05.2024)
Published in Tunisie Medicale (12.05.2024)
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Journal Article
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
Role play for genetic counseling learning: Value and students perceptions
Ben Abdelaziz, Rim, Boudabous, Hela, Hajji, Hela, Ben Messaoud, Sana, Azzouz, Hatem, Ben Chehida, Amel, Tebib, Neji
Published in Tunisie Medicale (01.03.2019)
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Published in Tunisie Medicale (01.03.2019)
Journal Article
Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques: Caractéristiques cliniques d’une série pédiatrique tunisienne
Jbebli, Elhem, Jbeli, Yosra, Amdouni, Rym, Ben Abdelaziz, Rim, Boudabous, Héla, Ben Chehida, Amel, Abdelmoula, Slim
Published in Tunisie Medicale (01.05.2023)
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Published in Tunisie Medicale (01.05.2023)
Journal Article
Déficit en biotinidase : cause curable d’encéphalopathie convulsivante
Ben Abdelaziz, Rim, Ben Abdelaziz, Ines, Hajji, Hela, Tabib, Neji
Published in Revue neurologique (01.04.2018)
Published in Revue neurologique (01.04.2018)
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Journal Article
Peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study
Ben Abdelaziz, Rim, Hafsi, Habiba, Hajji, Hela, Boudabous, Hela, Ben Chehida, Amel, Mrabet, Ali, Boussetta, Khadija, Barsaoui, Sihem, Sammoud, Azza, Hamzaoui, Mourad, Azzouz, Hatem, Tebib, Néji
Published in BMC pediatrics (19.12.2017)
Published in BMC pediatrics (19.12.2017)
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Journal Article