1. A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. (December 2017) Authors: Rafiullah, Rafiullah; Long, Alyssa; Ivanova, Anna; Ali, Hazrat; Berkel, Simone; Mustafa, Ghulam; Paramasivam, Nagarajan; Schlesner, Matthias; Wiemann, Stefan; Wade, Rebecca; Bolthauser, Eugen; Blum, Martin; Kahn, Richard; Caspary, Tamara; Rappold, Gudrun Journal: European journal of human genetics Issue: Volume 25:Number 12(2017) Page Start: 1324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. (2nd October 2022) Authors: Rafiullah, Rafiullah; Albalawi, Alia M.; Alaradi, Sultan R.; Alluqmani, Majed; Mushtaq, Muhammad; Wali, Abdul; Basit, Sulman Journal: Journal of neurogenetics Issue: Volume 36:Number 4(2022) Page Start: 108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. Issue 2 (13th November 2015) Authors: Rafiullah, Rafiullah; Aslamkhan, Muhammad; Paramasivam, Nagarajan; Thiel, Christian; Mustafa, Ghulam; Wiemann, Stefan; Schlesner, Matthias; Wade, Rebecca C; Rappold, Gudrun A; Berkel, Simone Journal: Journal of medical genetics Issue: Volume 53:Issue 2(2016) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗