1. A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis–lymphedema–telangiectasia syndrome by Whole Exome Sequencing. Issue 1 (February 2016) Authors: Bastaki, Fatma; Mohamed, Madiha; Nair, Pratibha; Saif, Fatima; Tawfiq, Nafisa; Al-Ali, Mahmoud Taleb; Brandau, Oliver; Hamzeh, Abdul Rezzak Journal: Molecular and cellular probes Issue: Volume 30:Issue 1(2016) Page Start: 18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome. Issue 1 (19th January 2017) Authors: Bizzari, Sami; Hamzeh, Abdul Rezzak; Nair, Pratibha; Mohamed, Madiha; Bastaki, Fatma Journal: Pediatrics international Issue: Volume 59:Issue 1(2017) Page Start: 113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome. Issue 1 (January 2017) Authors: Bizzari, Sami; Hamzeh, Abdul Rezzak; Nair, Pratibha; Mohamed, Madiha; Bastaki, Fatma Journal: Pediatrics international Issue: Volume 59:Issue 1(2017) Page Start: 113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genomics into Healthcare: The 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium. Issue 5 (31st March 2014) Authors: Fortina, Paolo; Khaja, Najib Al; Ali, Mahmoud Taleb Al; Hamzeh, Abdul Rezzak; Nair, Pratibha; Innocenti, Federico; Patrinos, George P.; Kricka, Larry J. Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 637 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Meta‐analyses of the association of HLA‐DRB1 alleles with rheumatoid arthritis among Arabs. (14th July 2016) Authors: Bizzari, Sami; Nair, Pratibha; Al Ali, Mahmoud Taleb; Hamzeh, Abdul Rezzak Journal: International journal of rheumatic diseases Issue: Volume 20:Number 7(2017) Page Start: 832 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. Issue 8 (27th May 2016) Authors: Nair, Pratibha; Hamzeh, Abdul Rezzak; Mohamed, Madiha; Saif, Fatima; Tawfiq, Nafisa; El Halik, Majdi; Al‐Ali, Mahmoud Taleb; Bastaki, Fatma Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel splice‐site mutation in WDR62 revealed by whole‐exome sequencing in a Sudanese family with primary microcephaly. (May 2016) Authors: Bastaki, Fatma; Mohamed, Madiha; Nair, Pratibha; Saif, Fatima; Tawfiq, Nafisa; Aithala, Gururaj; El‐Halik, Majdi; Al‐Ali, Mahmoud; Hamzeh, Abdul Rezzak Journal: Congenital anomalies Issue: Volume 56:Number 3(2016) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. (21st September 2017) Authors: Bastaki, Fatma; Bizzari, Sami; Hamici, Sana; Nair, Pratibha; Mohamed, Madiha; Saif, Fatima; Malik, Ethar Mustafa; Al‐Ali, Mahmoud Taleb; Hamzeh, Abdul Rezzak Journal: Annals of human genetics Issue: Volume 82:Number 1(2018:Jan.) Page Start: 35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates. (24th February 2017) Authors: Bastaki, Fatma; Mohamed, Madiha; Nair, Pratibha; Saif, Fatima; Mustafa, Ethar M.; Bizzari, Sami; Al‐Ali, Mahmoud T.; Hamzeh, Abdul Rezzak Journal: International journal of dermatology Issue: Volume 56:Number 5(2017) Page Start: 514 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗