1. Intrafamilial clinical heterogeneity of CSPP1‐related ciliopathy. (22nd May 2015) Authors: Ben‐Omran, Tawfeg; Alsulaiman, Reem; Kamel, Hussein; Shaheen, Ranad; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Intrafamilial clinical heterogeneity of CSPP1‐related ciliopathy. (22nd May 2015) Authors: Ben‐Omran, Tawfeg; Alsulaiman, Reem; Kamel, Hussein; Shaheen, Ranad; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Issue 1 (24th January 2017) Authors: Elsaid, Mahmoud Fawzi; Chalhoub, Nader; Ben‐Omran, Tawfeg; Kumar, Pankaj; Kamel, Hussein; Ibrahim, Khalid; Mohamoud, Yasmin; Al‐Dous, Eman; Al‐Azwani, Iman; Malek, Joel A.; Suhre, Karsten; Ross, M. Elizabeth; Aleem, Alice Abdel Journal: Annals of neurology Issue: Volume 81:Issue 1(2017:Jan.) Page Start: 68 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Issue 1 (January 2017) Authors: Elsaid, Mahmoud Fawzi; Chalhoub, Nader; Ben‐Omran, Tawfeg; Kumar, Pankaj; Kamel, Hussein; Ibrahim, Khalid; Mohamoud, Yasmin; Al‐Dous, Eman; Al‐Azwani, Iman; Malek, Joel A.; Suhre, Karsten; Ross, M. Elizabeth; Aleem, Alice Abdel Journal: Annals of neurology Issue: Volume 81:Issue 1(2017:Jan.) Page Start: 68 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Neuro-imaging evaluation after the first afebrile seizure in children: A retrospective observational study. (December 2016) Authors: Al-shami, Rana; Khair, Abdulhafeez M.; Elseid, Mahmoud; Ibrahim, Khalid; Al-Ahmad, Amna; Elsetouhy, Ahmed; Kamel, Hussein; Al Yafei, Khalid; Mohamed, Khalid Journal: Seizure Issue: Volume 43(2016) Page Start: 26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. Issue 6 (14th April 2015) Authors: Ben-Omran, Tawfeg; Fahiminiya, Somayyeh; Sorfazlian, Natalie; Almuriekhi, Mariam; Nawaz, Zafar; Nadaf, Javad; Khadija, Kitam Abu; Zaineddin, Samiha; Kamel, Hussein; Majewski, Jacek; Tropepe, Vincent Journal: Journal of medical genetics Issue: Volume 52:Issue 6(2015) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. To leave no stone unturned: cholelithiasis and subsequent gallstone ileus. (6th May 2016) Authors: Yong, Enhui; Chiu, Ting Fung; Kamel, Hussein; Yong, Enming Journal: BMJ case reports Issue: Volume 2016 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report. Issue 1 (December 2016) Authors: Elsaadany, Loai; El-Said, Mahmoud; Ali, Rehab; Kamel, Hussein; Ben-Omran, Tawfeg 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) ↗
9. Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum. Issue 6 (25th March 2014) Authors: Elsaid, Mahmoud F.; Kamel, Hussein; Chalhoub, Nader; Aziz, Nahla Abdel; Ibrahim, Khalid; Ben‐Omran, Tawfeg; George, Binu; Al‐Dous, Eman; Mohamoud, Yasmin; Malek, Joel A.; Ross, M. Elizabeth; Aleem, Alice Abdel Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗