1. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. (2019) Authors: 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 Journal: Genetical research Issue: Volume 101(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. (29th April 2019) Authors: 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 Journal: Genetical research Issue: Volume 101(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child. (10th September 2014) Authors: Benmously‐Mlika, Rym; Zaouak, Anissa; Mrad, Ridha; Laaroussi, Nadia; Abdelhak, Sonia; Hovnanian, Alain; Mokhtar, Insaf Journal: International journal of dermatology Issue: Volume 53:Number 12(2014:Dec.) Page Start: 1478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry. (29th March 2022) Authors: 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, A... Journal: Liver international Issue: Volume 42:Number 7(2022) Page Start: 1593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Distinctive findings in a boy with Simpson–Golabi–Behmel syndrome. Issue 4 (22nd December 2015) Authors: Halayem, Soumeyya; Hamza, Mariem; Maazoul, Faouzi; Ben Turkia, Hadhemi; Touati, Maissa; Tebib, Neji; Mrad, Ridha; Bouden, Asma Journal: American journal of medical genetics Issue: Volume 170:Issue 4(2016) Page Start: 1035 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. H syndrome: Clinical, histological and genetic investigation in Tunisian patients. Issue 8 (29th May 2018) Authors: Jaouadi, Hager; Zaouak, Anissa; Sellami, Khadija; Messaoud, Olfa; Chargui, Mariem; Hammami, Houda; Jones, Meriem; Jouini, Raja; Chadli Debbiche, Achraf; Chraiet, Karima; Fenniche, Sami; Mrad, Ridha; Mokni, Mourad; Turki, Hamida; Benkhalifa, Rym; Abdelhak, Sonia Journal: Journal of dermatology Issue: Volume 45:Issue 8(2018) Page Start: 978 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer. (21st August 2016) Authors: Riahi, Aouatef; Messaoudi, Abdelmonem; Mrad, Ridha; Fourati, Asma; Chabouni-Bouhamed, Habiba; Kharrat, Maher Journal: Journal of theoretical biology Issue: Volume 403(2016) Page Start: 188 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer. (21st August 2016) Authors: Riahi, Aouatef; Messaoudi, Abdelmonem; Mrad, Ridha; Fourati, Asma; Chabouni-Bouhamed, Habiba; Kharrat, Maher Journal: Journal of theoretical biology Issue: Volume 403(2016) Page Start: 188 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. (December 2017) Authors: Trabelsi, Mediha; Nouira, Malek; Maazoul, Faouzi; Kraoua, Lilia; Meddeb, Rim; Ouertani, Ines; Chelly, Imen; Benoit, Valérie; Besbes, Ghazi; Mrad, Ridha Journal: International journal of pediatric otorhinolaryngology Issue: Volume 103(2017:Dec.) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗