1. A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations. Issue 7 (25th July 2022) Authors: Ammar, Marwa; Safi, Wajdi; Tlili, Abdelaziz; Alila‐Fersi, Olfa; Frikha, Fakher; Chouchen, Jihen; Mnif, Fatma; Kharrat, Marwa; Maalej, Marwa; Felhi, Rahma; Abid, Mohamed; Mnif‐Feki, Mouna; Kacem, Faten Hadj; Fakhfakh, Faiza; Mkaouar‐Rebai, Emna Journal: International journal of developmental neuroscience Issue: Volume 82:Issue 7(2022) Page Start: 626 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations. (January 2021) Authors: Chouchen, Jihen; Mahfood, Mona; Alobathani, Maryam; Eldin Mohamed, Walaa Kamal; Tlili, Abdelaziz Journal: International journal of pediatric otorhinolaryngology Issue: Volume 140(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dual phenomenon of surface plasmon and laser optics induced EM enhancement for rapid DNA detection with semiconductor nanostructures (SiNWs/AgNPs). Issue 1 (1st August 2022) Authors: Ramachandran, Krithikadevi; Dauodi, Kais; Columbus, Soumya; Tlili, Abdelaziz; Gaidi, Mounir Journal: Journal of physics Issue: Volume 2327:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. First description of the MEGDEHL syndrome in the Tunisian population via whole‐exome sequencing: Novel nonsense mutation in SERAC1 gene. Issue 8 (22nd August 2022) Authors: Felhi, Rahma; Monastiri, Kamel; Ben Hamida, Hayet; Ammar, Marwa; Chioukh, Fatma Zohra; Tabarki, Brahim; Chouchen, Jihene; Fakhfakh, Faiza; Tlili, Abdelaziz; Mkaouar‐Rebai, Emna Journal: International journal of developmental neuroscience Issue: Volume 82:Issue 8(2022) Page Start: 735 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mitochondrial mutations in non-syndromic hearing loss at UAE. (November 2020) Authors: Mohamed, Walaa Kamal Eldin; Arnoux, Marc; Cardoso, Thyago H.S.; Almutery, Abdullah; Tlili, Abdelaziz Journal: International journal of pediatric otorhinolaryngology Issue: Volume 138(2020:Nov.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment. Issue 21 (5th December 2022) Authors: Souissi, Amal; Abdelmalek Driss, Dorra; Chakchouk, Imen; Ben Said, Mariem; Ben Ayed, Ikhlas; Mosrati, Mohamed Ali; Elloumi, Ines; Tlili, Abdelaziz; Aifa, Sami; Masmoudi, Saber Journal: Journal of biomolecular structure & dynamics Issue: Volume 40:Issue 21(2022) Page Start: 10940 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel mutation in the DSG1 gene causes autosomal‐dominant striate palmoplantar keratoderma in a large Syrian family. (13th June 2019) Authors: Abi Zamer, Batoul; Mahfood, Mona; Saleh, Batoul; Al Mutery, Abdullah Fahd; Tlili, Abdelaziz Journal: Annals of human genetics Issue: Volume 83:Number 6(2019:Nov.) Page Start: 472 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Tuning the nanostructural properties of silver nanoparticles for optimised surface enhanced Raman scattering sensing of SARS CoV-2 spike protein. (27th September 2021) Authors: Daoudi, Kais; Ramachandran, Krithikadevi; Columbus, Soumya; Tlili, Abdelaziz; Mahfood, Mona; Khakani, My Ali El; Gaidi, Mounir Journal: Advances in natural sciences Issue: Volume 12:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes. (3rd July 2016) Authors: Alila, Olfa Fersi; Rebai, Emna Mkaouar; Tabebi, Mouna; Tej, Amel; Chamkha, Imen; Tlili, Abdelaziz; Bouguila, Jihene; Tilouche, Samia; Soyah, Nejla; Boughamoura, Lamia; Fakhfakh, Faiza Journal: Mitochondrial DNA Issue: Volume 27:Number 4(2016) Page Start: 2873 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene. Issue 6 (24th September 2010) Authors: Mkaouar-Rebai, Emna; Fendri-Kriaa, Nourhene; Louhichi, Nacim; Tlili, Abdelaziz; Triki, Chahnez; Ghorbel, Abdelmoneem; Masmoudi, Saber; Fakhfakh, Faiza Journal: Bioscience reports Issue: Volume 30:Issue 6(2010) Page Start: 405 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗