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Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 10, p. 1, doi. 10.1002/mgg3.70007
By:
- Kraoua, Ichraf;
- Jamoussi, Maha;
- Drissi, Cyrine;
- Kraoua, Lilia;
- Drunat, Séverine;
- Benrhouma, Hanene;
- Ben Younes, Thouraya;
- Nagi, Sonia;
- Abdelhak, Sonia;
- Boespflug Tanguy, Odile;
- Youssef‐Turki, Ilhem Ben;
- Trabelsi, Mediha;
- Dorboz, Imen
Publication type:
Article
Genome Tunisia Project: paving the way for precision medicine in North Africa.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01365-w
By:
- 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;
- Achour, Ahlem
Publication type:
Article
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
Published in:
Pediatric Nephrology, 2023, v. 38, n. 1, p. 119, doi. 10.1007/s00467-022-05525-1
By:
- El Younsi, Mariem;
- Trabelsi, Médiha;
- Ben Youssef, Sandra;
- Ouertani, Inès;
- Hammi, Yousra;
- Achour, Ahlem;
- Maazoul, Faouzi;
- Kharrat, Maher;
- Gargah, Tahar;
- M'rad, Ridha
Publication type:
Article
Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry.
Published in:
Liver International, 2022, v. 42, n. 7, p. 1593, doi. 10.1111/liv.15239
By:
- 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;
- Özçay, Figen;
- Rahim, Fakher;
- El‐Shabrawi, Mortada H.F.;
- Shteyer, Eyal;
- Di Giorgio, Angelo;
- D'Antiga, Lorenzo;
- Mingozzi, Federico;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.
Published in:
Molecular Biology Reports, 2019, v. 46, n. 4, p. 4185, doi. 10.1007/s11033-019-04869-6
By:
- Lahbib, Saida;
- Trabelsi, Mediha;
- Dallali, Hamza;
- Sakka, Rania;
- Bourourou, Rym;
- Kefi, Rym;
- Mrad, Ridha;
- Abdelhak, Sonia;
- Gaddour, Naoufel
Publication type:
Article
Pathologic complete response to neoadjuvant imatinib of a gastric stromal tumor with concomitant mutations in KIT: A case report and literature review.
Published in:
2023
By:
- Rekaya, Mariem Ben;
- Ksontini, Feryel;
- Kacem, Linda Bel Haj;
- Sassi, Farah;
- Harigua‐Souiai, Emna;
- Boujneh, Ryma;
- H'mayada, Ahmed;
- Zaimi, Yosra;
- Ayadi, Mouna;
- Trabelsi, Mediha;
- Mrad, Ridha;
- Rammeh, Soumaya
Publication type:
Case Study

Found: 6

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Genome Tunisia Project: paving the way for precision medicine in North Africa.

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.

Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry.

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.

Pathologic complete response to neoadjuvant imatinib of a gastric stromal tumor with concomitant mutations in KIT: A case report and literature review.