1. 25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations. Issue 7 (17th July 2021) Authors: Bakhamis, Sarah; Imtiaz, Faiqa; Ramzan, Khushnooda; De Vol, Edward; Al-Sagheir, Osamah; Al-Rajhi, Abdulrahman; Alashwal, Abdullah; Bin Abbas, Bassam; Sakati, Nadia; Al-Sagheir, Afaf Journal: Endocrine connections Issue: Volume 10:Issue 7(2021) Page Start: 767 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard–Soulier syndrome. Issue 5 (July 2021) Authors: Al-Numair, Nouf; Ramzan, Khushnooda; Alquait, Laila; Alshehri, Meshal; Imtiaz, Faiqa; Owaidah, Tarek Journal: Blood coagulation and fibrinolysis Issue: Volume 32:Issue 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. Issue 4 (12th April 2012) Authors: Khalifa, Ola; Imtiaz, Faiqa; Allam, Rabab; Al-Hassnan, Zuhair; Al-Hemidan, Amal; Al-Mane, Khalid; Abuharb, Gheid; Balobaid, Ameera; Sakati, Nadia; Hyland, James; Al-Owain, Mohammed Journal: Journal of medical genetics Issue: Volume 49:Issue 4(2012) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases. Issue 1 (14th September 2021) Authors: Alghamdi, Malak A.; Tohary, Mohammed; Alzaidan, Hamad; Imtiaz, Faiqa; Al‐Hassnan, Zuhair N. Journal: JIMD reports Issue: Volume 62:Issue 1(2021) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin. Issue 12 (22nd October 2018) Authors: Balobaid, Ameera; Ben‐Omran, Tawfeg; Ramzan, Khushnooda; Altassan, Ruqaiah; Almureikhi, Mariam; Musa, Sara; Al‐Hashmi, Nadia; Al‐Owain, Mohammed; Al‐Zaidan, Hamad; Al‐Hassnan, Zuhair; Imtiaz, Faiqa; Al‐Sayed, Moeenaldeen Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients. Issue 12 (8th October 2022) Authors: Al‐Hamed, Mohamed H.; Hussein, Maged H.; Shah, Yaser; Al‐Mojalli, Hamad; Alsabban, Essam; Alshareef, Turki; Altayyar, Ali; Elshouny, Samir; Ali, Wafaa; Abduljabbar, Mai; AlOtaibi, Afaf; AlShammasi, Amal; Akili, Rana; Abouelhoda, Mohamed; Sayer, John A.; Dasouki, Majed J.; Imtiaz, Faiqa Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: e24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations. Issue 5 (July 2019) Authors: Al-Numair, Nouf S.; Ramzan, Khushnooda; Saleh, Mahasen; Alzahrani, Hazzaa; Tarawah, Ahmed; Abu-Douleh, Esraa; Elbaik, Lina; Imtiaz, Faiqa; Owaidah, Tarek M. Journal: Blood coagulation and fibrinolysis Issue: Volume 30:Issue 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population. (1st July 2021) Authors: Aldalaan, Abdullah M.; Ramzan, Khushnooda; Saleemi, Sarfraz A.; Weheba, Ihab; Alquait, Laila; Abdelsayed, Abeer; Alzubi, Fatima; Zaytoun, Hamdeia; Alharbi, Nadeen; Al‐Owain, Mohammed; Imtiaz, Faiqa Journal: Pulmonary circulation Issue: Volume 11:Number 3(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population. (July 2021) Authors: Aldalaan, Abdullah M.; Ramzan, Khushnooda; Saleemi, Sarfraz A.; Weheba, Ihab; Alquait, Laila; Abdelsayed, Abeer; Alzubi, Fatima; Zaytoun, Hamdeia; Alharbi, Nadeen; Al-Owain, Mohammed; Imtiaz, Faiqa Journal: Pulmonary circulation Issue: Volume 11:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genotype–phenotype correlation of 33 patients with maple syrup urine disease. Issue 11 (19th August 2020) Authors: Khalifa, Ola A.; Imtiaz, Faiqa; Ramzan, Khushnooda; Zaki, Osama; Gamal, Radwa; Elbaik, Lina; Rihan, Shaimaa; Salam, Ehab; Abdul‐Mawgoud, Rehab; Hassan, Magdy; Hassan, Nahla; Saleh, Eman; Seoudi, Dina; Moustafa, Amr S. Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗