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Autism in Phenylketonuria Patients.
Published in:
Journal of Child Neurology, 2016, v. 31, n. 7, p. 843, doi. 10.1177/0883073815623636
By:
- Khemir, Sameh;
- Halayem, Soumeyya;
- Azzouz, Hatem;
- Siala, Hajer;
- Ferchichi, Maherzia;
- Guedria, Asma;
- Bedoui, Amel;
- Abdelhak, Sonia;
- Messaoud, Taieb;
- Tebib, Neji;
- Belhaj, Ahlem;
- Kaabachi, Naziha
Publication type:
Article
Screening of three Mediterranean phenylketonuria mutations in Tunisian families.
Published in:
Journal of Genetics, 2012, v. 91, n. 1, p. 91, doi. 10.1007/s12041-012-0140-z
By:
- KHEMIR, SAMEH;
- SIALA, HAJER;
- TAIEB, SAMEH;
- CHERIF, WAFA;
- AZZOUZ, HATEM;
- KÉFI, RYM;
- ABDELHAK, SONIA;
- KHOUJA, NAZIHA;
- TEBIB, NEJI;
- MASSAOUD, TAIEB;
- DRIDI, MARIE;
- KAABACHI, NAZIHA
Publication type:
Article
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 3, p. 170, doi. 10.1038/jhg.2011.122
By:
- Mili, Amira;
- Ben Charfeddine, Ilhem;
- Mamaï, Ons;
- Cherif, Wafa;
- Adala, Labiba;
- Amara, Abdelbasset;
- Pagliarani, Serena;
- Lucchiari, Sabrina;
- Ayadi, Abdelkarim;
- Tebib, Neji;
- Harbi, Abdelaziz;
- Bouguila, Jihene;
- H'Mida, Dorra;
- Saad, Ali;
- Limem, Khalifa;
- Comi, G P;
- Gribaa, Moez
Publication type:
Article
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 3, p. 221, doi. 10.1038/jhg.2012.3
By:
- Mili, Amira;
- Charfeddine, Ilhem Ben;
- Mama, Ons;
- Abdelhak, Sonia;
- Adala, Labiba;
- Amara, Abdelbasset;
- Pagliarani, Serena;
- Lucchiarri, Sabrina;
- Ayadi, Abdelkarim;
- Tebib, Neji;
- Harbi, Abdelaziz;
- Bouguila, Jihene;
- H'Mida, Dorra;
- Saad, Ali;
- Limem, Khalifa;
- Comi, G P;
- Gribaa, Moez
Publication type:
Article
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1035, doi. 10.1002/ajmg.a.37518
By:
- Halayem, Soumeyya;
- Hamza, Mariem;
- Maazoul, Faouzi;
- Ben Turkia, Hadhemi;
- Touati, Maissa;
- Tebib, Neji;
- Mrad, Ridha;
- Bouden, Asma
Publication type:
Article
Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.
Published in:
African Health Sciences, 2020, v. 20, n. 1, p. 444, doi. 10.4314/ahs.v20i1.51
By:
- Hamouda, Samia;
- Fredj, Sondess Hadj;
- Hilioui, Sonia;
- Khalsi, Fatma;
- Ameur, Salma Ben;
- Bouguila, Jihene;
- Boussoffara, Raoudha;
- Besbes, Habib;
- Ajmi, Houda;
- Mattoussi, Nadia;
- Messaoud, Taieb;
- Mehrezi, Ahmed;
- Hachicha, Mongia;
- Boughamoura, Lamia;
- Sfar, Mohamed Taher;
- Gueddiche, Neji;
- Abroug, Saoussen;
- Becheur, Saida Ben;
- Barsaoui, Sihem;
- Tebib, Neji
Publication type:
Article
Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis.
Published in:
Annales de Biologie Clinique, 2021, v. 79, n. 1, p. 63, doi. 10.1684/abc.2021.1614
By:
- Nefzi, Malek;
- Fredj, Sondess Hadj;
- Dabboubi, Rym;
- Hamouda, Samia;
- Tebib, Neji;
- Boussetta, Khedija;
- Messaoud, Taieb
Publication type:
Article
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.
Published in:
Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000041
By:
- Jaouadi, Hager;
- Chehida, Amel Ben;
- Kraoua, Lilia;
- Etchevers, Heather C.;
- Argiro, Laurent;
- Kasdallah, Nadia;
- Blibech, Sonia;
- Delague, Valérie;
- Lévy, Nicolas;
- Tebib, Néji;
- Mrad, Ridha;
- Abdelhak, Sonia;
- Benkhalifa, Rym;
- Zaffran, Stéphane
Publication type:
Article
Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Published in:
2021
By:
- Chkioua, Latifa;
- Amri, Yessine;
- Chaima, Sahli;
- Fenni, Ferdawes;
- Boudabous, Hela;
- Ben Turkia, Hadhami;
- Messaoud, Taieb;
- Tebib, Neji;
- Laradi, Sandrine
Publication type:
Correction Notice
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01061-3
By:
- Chkioua, Latifa;
- Amri, Yessine;
- Chaima, Sahli;
- Fenni, Ferdawes;
- Boudabous, Hela;
- Ben Turkia, Hadhami;
- Messaoud, Taieb;
- Tebib, Neji;
- Laradi, Sandrine
Publication type:
Article
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01061-3
By:
- Chkioua, Latifa;
- Amri, Yessine;
- Saheli, Chayma;
- Fenni, Ferdawes;
- Boudabous, Hela;
- Ben Turkia, Hadhami;
- Messaoud, Taieb;
- Tebib, Neji;
- Laradi, Sandrine
Publication type:
Article
Novel splice site <italic>IDUA</italic> gene mutation in Tunisian pedigrees with hurler syndrome.
Published in:
Diagnostic Pathology, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13000-018-0710-3
By:
- Chkioua, Latifa;
- Boudabous, Hela;
- Jaballi, Ibtissem;
- Grissa, Oussama;
- Turkia, Hadhami Ben;
- Tebib, Neji;
- Laradi, Sandrine
Publication type:
Article
Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene.
Published in:
Neurodegenerative Diseases, 2013, v. 12, n. 4, p. 207, doi. 10.1159/000346680
By:
- Kallabi, Fakhri;
- Hadj Salem, Ikhlass;
- Ben Salah, Ghada;
- Ben Turkia, Hadhami;
- Ben Chehida, amel;
- Tebib, Neji;
- Fakhfakh, Faiza;
- Kamoun, Hassen
Publication type:
Article
High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness.
Published in:
2019
By:
- Chehida, Amel Ben;
- Messaoud, Sana Ben;
- Abdelaziz, Rim Ben;
- Boudabous, Hela;
- Oujra, Mariem;
- Turkia, Hadhami Ben;
- Abdelmoula, Mohamed Slim;
- Azzouz, Hatem;
- Hakim, Kaothar;
- Tebib, Neji;
- Ben Chehida, Amel;
- Ben Messaoud, Sana;
- Ben Abdelaziz, Rim;
- Ben Turkia, Hadhami
Publication type:
journal article
Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria.
Published in:
Journal of Developmental & Physical Disabilities, 2019, v. 31, n. 6, p. 753, doi. 10.1007/s10882-019-09674-4
By:
- Abdelaziz, Rim Ben;
- Chehida, Amel Ben;
- Chakchouk, Henda Kachouri;
- Messaoud, Sana Ben;
- Hajji, Hela;
- Boudabous, Hela;
- Ferchichi, Maherzia;
- Azzouz, Hatem;
- Tebib, Néji
Publication type:
Article
Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 8, p. 1057, doi. 10.1515/jpem-2020-0025
By:
- Ben Abdelaziz, Rim;
- Tangour, Nizar;
- Ben Chehida, Amel;
- Haj Taieb, Sameh;
- Feki, Moncef;
- Azzouz, Hatem;
- Tebib, Neji
Publication type:
Article
Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia).
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 7, p. 901, doi. 10.1515/jpem-2020-0035
By:
- 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
Publication type:
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.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 9, p. 979, doi. 10.1515/jpem-2018-0151
By:
- 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
Publication type:
Article
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
Published in:
Molecular Biology Reports, 2013, v. 40, n. 7, p. 4197, doi. 10.1007/s11033-013-2500-z
By:
- Ben Rhouma, Faten;
- Azzouz, Hatem;
- Petit, François;
- Khelifa, Mariem;
- Chehida, Amel;
- Nasrallah, Fehmi;
- Parisot, Frédéric;
- Lasram, Khaled;
- Kefi, Rym;
- Bouyacoub, Yosra;
- Romdhane, Lilia;
- Baussan, Christiane;
- Kaabachi, Naziha;
- Ben Dridi, Marie-Françoise;
- Tebib, Neji;
- Abdelhak, Sonia
Publication type:
Article
Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.
Published in:
Diabetology & Metabolic Syndrome, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13098-023-01065-2
By:
- Chkioua, Latifa;
- Amri, Yessine;
- Sahli, Chayma;
- Rhouma, Ferdawes Ben;
- Chehida, Amel Ben;
- Tebib, Neji;
- Messaoud, Taieb;
- Abdennebi, Hassen Ben;
- Laradi, Sandrine
Publication type:
Article
Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.
Published in:
American Journal of Human Biology, 2016, v. 28, n. 2, p. 171, doi. 10.1002/ajhb.22764
By:
- Ben Halim, Nizar;
- Hsouna, Sana;
- Lasram, Khaled;
- Rejeb, Insaf;
- Walha, Asma;
- Talmoudi, Faten;
- Messai, Habib;
- Sabrine Ben Brick, Ahlem;
- Ouragini, Houyem;
- Cherif, Wafa;
- Nagara, Majdi;
- Rhouma, Faten Ben;
- Chouchene, Ibtissem;
- Ouechtati, Farah;
- Bouyacoub, Yosra;
- Ben Rekaya, Mariem;
- Messaoud, Olfa;
- Ben Ammar, Slim;
- El Matri, Leila;
- Tebib, Neji
Publication type:
Article
Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study.
Published in:
2018
By:
- 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
Publication type:
journal article
Peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study.
Published in:
2017
By:
- 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
Publication type:
journal article
Renal Involvement in 2 Siblings With Cockayne Syndrome.
Published in:
2017
By:
- Ben Chehida, Amel;
- Ghali, Narjess;
- Ben Abdelaziz, Rim;
- Ben Moussa, Fatma;
- Tebib, Neji
Publication type:
journal article
Renal Involvement in 2 Siblings With Cockayne Syndrome.
Published in:
2017
By:
- Chehida, Amel Ben;
- Ghali, Narjess;
- Abdelaziz, Rim Ben;
- Moussa, Fatma Ben;
- Tebib, Neji
Publication type:
Case Study
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Published in:
Diagnostic Pathology, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13000-022-01221-8
By:
- Chkioua, Latifa;
- Amri, Yessine;
- Saheli, Chaima;
- Mili, Wassila;
- Mabrouk, Sameh;
- Chabchoub, Imen;
- Boudabous, Hela;
- Azzouz, Wissem Ben;
- Turkia, Hadhami Ben;
- Ferchichi, Salima;
- Tebib, Neji;
- Massoud, Taieb;
- Ghorbel, Mohamed;
- Laradi, Sandrine
Publication type:
Article
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Published in:
Biochemistry & Cell Biology, 2016, v. 94, n. 3, p. 265, doi. 10.1139/bcb-2015-0168
By:
- Kallabi, Fakhri;
- Ben Salah, Ghada;
- Ben Chehida, Amel;
- Tabebi, Mouna;
- Felhi, Rahma;
- Ben Turkia, Hadhami;
- Tebib, Neji;
- Keskes, Leila;
- Kamoun, Hassen
Publication type:
Article

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