1. 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) ↗
2. 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) ↗
3. Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. (26th February 2018) Authors: Alsahli, Saud; Alrifai, Muhammad Talal; Al Tala, Saeed; Mutairi, Fuad Al; Alfadhel, Majid Journal: Journal of central nervous system disease Issue: Volume 10(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Joint laxity in homozygotes for severe POU1F1 mutations. Issue 12 (19th August 2016) Authors: Shamseldin, Hanan E.; Maddirevula, Sateesh; Nabil, Amira; Al‐Fadhil, Saeed; Al Tala, Saeed; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3356 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. Issue 12 (15th October 2014) Authors: Shaheen, Ranad; Al Tala, Saeed; Almoisheer, Agaadir; Alkuraya, Fowzan S Journal: Journal of medical genetics Issue: Volume 51:Issue 12(2014) Page Start: 814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Issue 9 (12th November 2021) Authors: Tremblay, Martine W; Green, Matthew V; Goldstein, Benjamin M; Aldridge, Andrew I; Rosenfeld, Jill A; Streff, Haley; Tan, Wendy D; Craigen, William; Bekheirnia, Nasim; Al Tala, Saeed; West, Anne E; Jiang, Yong-hui Journal: Human molecular genetics Issue: Volume 31:Issue 9(2022) Page Start: 1430 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The many faces of peroxisomal disorders: Lessons from a large Arab cohort. Issue 2 (18th December 2018) Authors: Alshenaifi, Jumanah; Ewida, Nour; Anazi, Shams; Shamseldin, Hanan E.; Patel, Nisha; Maddirevula, Sateesh; Al‐Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Jacob, Minnie; Alhashem, Amal; Alzaidan, Hamad I.; Seidahmed, Mohammed Z.; Alhashemi, Nadia; ... Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗