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) ↗