1. 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) ↗
2. An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13. Issue 1 (18th July 2019) Authors: Al-Mutairy, Eid A.; Imtiaz, Faiga Ahmad; Khalid, Mohammed; Al Qattan, Somaya; Saleh, Soad; Mahmoud, Linah Mahmood; Al-Saif, Maher Mohammed; Al-Haj, Latifa; Al-Enazi, Azizah; AlJebreen, Abdullah M.; Mohammed, Shamayel Faheem; Mobeireek, Abdullah Fahad; Alkattan, Khalid; Chisti,... Journal: European respiratory journal Issue: Volume 54:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterizing the morbid genome of ciliopathies. Issue 1 (December 2016) Authors: Shaheen, Ranad; Szymanska, Katarzyna; Basu, Basudha; Patel, Nisha; Ewida, Nour; Faqeih, Eissa; Al Hashem, Amal; Derar, Nada; Alsharif, Hadeel; Aldahmesh, Mohammed; Alazami, Anas; Hashem, Mais; Ibrahim, Niema; Abdulwahab, Firdous; Sonbul, Rawda; Alkuraya, Hisham; Alnemer, Maha; Al Tala, Saeed; Al-... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. (January 2018) Authors: Alfadhel, Majid; Nashabat, Marwan; Alrifai, Muhammad Talal; Alshaalan, Hesham; Al Mutairi, Fuad; Al-Shahrani, Saif A.; Plecko, Barbara; Almass, Rawan; Alsagob, Maysoon; Almutairi, Faten B.; Al-Rumayyan, Ahmed; Al-Twaijri, Waleed; Al-Owain, Mohammed; Taylor, Robert W.; Kaya, Namik Journal: European journal of paediatric neurology Issue: Volume 22:Number 1(2018:Jan.) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Issue 4 (9th August 2017) Authors: van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. Issue 11 (31st August 2016) Authors: Kaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary; Hasan, Sonia; Muccioli, Maria; Almutairi, Faten B; Almass, Rawan; Aldosary, Mazhor; Monies, Dorota; Mustafa, Osama M; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Eva; Binhumaid, Faisal S; Qari, Alya; Alm... Journal: Journal of medical genetics Issue: Volume 53:Issue 11(2016) Page Start: 786 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. Issue 8 (November 2017) Authors: Nashabat, Marwan; Maegawa, Gustavo; Nissen, Peter H.; Nexo, Ebba; Al-Shamrani, Hussain; Al-Owain, Mohammed; Alfadhel, Majid Journal: Journal of pediatric hematology/oncology Issue: Volume 39:Issue 8(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutation in MPDZ causes severe congenital hydrocephalus. Issue 1 (13th December 2012) Authors: Al-Dosari, Mohammed S; Al-Owain, Mohammed; Tulbah, Maha; Kurdi, Wesam; Adly, Nouran; Al-Hemidan, Amal; Masoodi, Tariq A; Albash, Buthainah; Alkuraya, Fowzan S Journal: Journal of medical genetics Issue: Volume 50:Issue 1(2013) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy. (14th December 2010) Authors: Al-Owain, Mohammed; Kaya, Namik; Al-Zaidan, Hamad; Bin Hussain, Ibrahim; Al-Manea, Hadeel; Al-Hindi, Hindi; Kennedy, Shelley; Iqbal, M. Anwar; Al-Mojalli, Hamad; Al-Bakheet, Albandary; Puel, Anne; Casanova, Jean-Laurent; Al-Muhsen, Saleh Other Names: Rezaei Nima Academic Editor. Journal: Clinical & developmental immunology Issue: Volume 2010(2010) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗