1. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Issue 10 (26th July 2021) Authors: Olinger, Eric; Alawi, Intisar Al; Al Riyami, Mohammed S.; Salmi, Isa Al; Molinari, Elisa; Faqeih, Eissa Ali; Al‐Hamed, Mohamed H.; Barroso‐Gil, Miguel; Powell, Laura; Al‐Hussaini, Abdulrahman A.; Rahim, Khawla A.; Almontashiri, Naif A. M.; Miles, Colin; Shril, Shirlee; Hildebrandt, Friedhelm; Con... Journal: Human mutation Issue: Volume 42:Issue 10(2021) Page Start: 1221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG. Issue 4 (1st March 2021) Authors: Alsharhan, Hind; Ng, Bobby G.; Daniel, Earnest James Paul; Friedman, Jennifer; Pivnick, Eniko K.; Al‐Hashem, Amal; Faqeih, Eissa Ali; Liu, Pengfei; Engelhardt, Nicole M.; Keller, Kierstin N.; Chen, Jie; Mazzeo, Pamela A.; Rosenfeld, Jill A.; Bamshad, Michael J.; Nickerson, Deborah A.; Raymond, Ki... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 987 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype. (30th April 2020) Authors: Alayed, Alaa M; Faqeih, Eissa Ali; Aldehaimi, Abdulwahed; Peake, Roy W A; Almontashiri, and Naif A M Journal: Clinical chemistry Issue: Volume 66:Number 5(2020) Page Start: 739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. Issue 9 (29th July 2013) Authors: Sparrow, Duncan B.; Faqeih, Eissa Ali; Sallout, Bahauddin; Alswaid, Abdulrahman; Ababneh, Faroug; Al‐Sayed, Moeenaldeen; Rukban, Hadeel; Eyaid, Wafaa M.; Kageyama, Ryoichiro; Ellard, Sian; Turnpenny, Peter D.; Dunwoodie, Sally L. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. Issue 9 (29th July 2013) Authors: Sparrow, Duncan B.; Faqeih, Eissa Ali; Sallout, Bahauddin; Alswaid, Abdulrahman; Ababneh, Faroug; Al‐Sayed, Moeenaldeen; Rukban, Hadeel; Eyaid, Wafaa M.; Kageyama, Ryoichiro; Ellard, Sian; Turnpenny, Peter D.; Dunwoodie, Sally L. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗