1. A de novo ATXN2L variant in a child with developmental delay and macrocephaly. Issue 3 (7th December 2020) Authors: Alzahrani, Fatema; Albatti, Turki H.; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 949 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin. Issue 2 (9th February 2018) Authors: Al Mutairi, Fuad; Alzahrani, Fatema; Ababneh, Farouq; Kashgari, Amna A.; Alkuraya, Fowzan S. Journal: Annals of neurology Issue: Volume 83:Issue 2(2018) Page Start: 433 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis. Issue 1 (22nd March 2022) Authors: Al‐Hamed, Mohamed H.; Altuwaijri, Norah; Alsahan, Nada; Ali, Wafaa; Abdulwahab, Firdous; Alzahrani, Fatema; Majrashi, Nada; Alkuraya, Fowzan S. Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans. Issue 6 (20th February 2020) Authors: Shaheen, Ranad; Alsahli, Saud; Ewida, Nour; Alzahrani, Fatema; Shamseldin, Hanan E.; Patel, Nisha; Al Qahtani, Awad; Alhebbi, Homoud; Alhashem, Amal; Al‐Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Abouelhoda, Mohamed; Monies, Dorota; Al‐Hussaini, Abdulrahman; Alzouman, Muneerah A.; Shagrani, Moha... Journal: Hepatology Issue: Volume 71:Issue 6(2020) Page Start: 2067 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenome and variome of skeletal dysplasia. (December 2018) Authors: Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan; Anazi, Shams; Ewida, Nour; Alsaif, Hessa; Mohamed, Jawahir; Alazami, Anas; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further delineation of SMG9‐related heart and brain malformation syndrome. Issue 5 (20th February 2021) Authors: Altuwaijri, Norah; Abdelbaky, Mona; Alhashem, Amal; Alrakaf, Maha; Hashem, Mais; Alzahrani, Fatema; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1624 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Issue 1 (December 2015) Authors: Sanders, Anna; de Vrieze, Erik; Alazami, Anas; Alzahrani, Fatema; Malarkey, Erik; Sorusch, Nasrin; Tebbe, Lars; Kuhns, Stefanie; van Dam, Teunis; Alhashem, Amal; Tabarki, Brahim; Lu, Qianhao; Lambacher, Nils; Kennedy, Julie; Bowie, Rachel; Hetterschijt, Lisette; van Beersum, Sylvia; van Reeuwijk,... Journal: Genome biology Issue: Volume 16:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. Issue 2 (10th December 2013) Authors: Alazami, Anas M.; Seidahmed, Mohammed Zain; Alzahrani, Fatema; Mohammed, Adam O.; Alkuraya, Fowzan S. Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. Issue 10 (10th October 2012) Authors: Shaheen, Ranad; Alazami, Anas M; Alshammari, Muneera J; Faqeih, Eissa; Alhashmi, Nadia; Mousa, Noon; Alsinani, Aisha; Ansari, Shinu; Alzahrani, Fatema; Al-Owain, Mohammed; Alzayed, Zayed S; Alkuraya, Fowzan S Journal: Journal of medical genetics Issue: Volume 49:Issue 10(2012) Page Start: 630 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗