1. A new association between CDK5RAP2 microcephaly and congenital cataracts. (22nd December 2017) Authors: Alfares, Ahmed; Alhufayti, Ibtihal; Alsubaie, Lamia; Alowain, Mohammed; Almass, Rawan; Alfadhel, Majid; Kaya, Namik; Eyaid, Wafaa Journal: Annals of human genetics Issue: Volume 82:Number 3(2018:May) Page Start: 165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy. Issue 1 (December 2016) Authors: Al-Hassnan, Zuhair; Shinwari, Zarghuna; Wakil, Salma; Tulbah, Sahar; Mohammed, Shamayel; Rahbeeni, Zuhair; Alghamdi, Mohammed; Rababh, Monther; Colak, Dilek; Kaya, Namik; Al-Fayyadh, Majid; Alburaiki, Jehad Journal: BMC medical genetics 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) ↗
3. Breast stromal fibroblasts from histologically normal surgical margins are pro‐carcinogenic. Issue 4 (12th November 2013) Authors: Al‐Rakan, Maha A; Colak, Dilek; Hendrayani, Siti‐Faujiah; Al‐Bakheet, Albandary; Al‐Mohanna, Falah H; Kaya, Namik; Al‐Malik, Osama; Aboussekhra, Abdelilah Journal: Journal of pathology Issue: Volume 231:Issue 4(2013) Page Start: 457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Breast stromal fibroblasts from histologically normal surgical margins are pro‐carcinogenic. Issue 4 (December 2013) Authors: Al‐Rakan, Maha A; Colak, Dilek; Hendrayani, Siti‐Faujiah; Al‐Bakheet, Albandary; Al‐Mohanna, Falah H; Kaya, Namik; Al‐Malik, Osama; Aboussekhra, Abdelilah Journal: Journal of pathology Issue: Volume 231:Issue 4(2013) Page Start: 457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and biochemical features associated with BCS1L mutation. Issue 5 (19th September 2012) Authors: Al‐Owain, Mohammed; Colak, Dilek; Albakheet, Albandary; Al‐Younes, Banan; Al‐Humaidi, Zainab; Al‐Sayed, Moeen; Al‐Hindi, Hindi; Al‐Sugair, Abdulaziz; Al‐Muhaideb, Ahmed; Rahbeeni, Zuhair; Al‐Sehli, Abdullah; Al‐Fadhli, Fatima; Ozand, Pinar T.; Taylor, Robert W.; Kaya, Namik Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 5(2013) Page Start: 813 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Issue 3 (12th January 2022) Authors: Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka‐Pronicka, Katarzyna; Piekutowska‐Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Par... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. Issue 3 (31st January 2018) Authors: Alrakaf, Laila; Al‐Owain, Mohammed A.; Busehail, Maryam; Alotaibi, Maha A.; Monies, Dorota; Aldhalaan, Hesham M.; Alhashem, Amal; Al‐Hassnan, Zuhair N.; Rahbeeni, Zuhair A.; Murshedi, Fathiya Al; Ani, Nadia Al; Al‐Maawali, Almundher; Ibrahim, Niema A.; Abdulwahab, Firdous M.; Alsagob, Maysoon; Ha... Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 715 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Genetics of ataxia telangiectasia in a highly consanguineous population. (28th September 2021) Authors: Al‐Muhaizea, Mohammed A.; Aldeeb, Hanouf; Almass, Rawan; Jaber, Hadeel; Binhumaid, Felwa; Alquait, Laila; Abukhalid, Musaad; Aldhalaan, Hesham; Alsagob, Maysoon; Al‐Bakheet, Albandary; Aldosary, Mazhor; Alkofide, Hadeel; Alrasheed, Maha M.; Colak, Dilek; Kaya, Namik Journal: Annals of human genetics Issue: Volume 86:Number 1(2022) Page Start: 34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype. Issue 5 (5th March 2021) Authors: Al‐Bakheet, Albandary; Tohary, Mohamed; Khan, Sameena; Chedrawi, Aziza; Edrees, Alaa; Tous, Ehab; Al‐Mousa, Hamoud; Al‐Otaibi, Lefian; AlShahrani, Saif; Alsagob, Maysoon; Al‐Quait, Laila; Almass, Rawan; Al‐Joudi, Haya; Monies, Dorota; Al‐Semari, Abdulaziz; Aldosary, Mazhor; Daghestani, Maha; Cola... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 724 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗