1. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum. Issue 5 (9th April 2014) Authors: Sukalo, Maja; Fiedler, Ariane; Guzmán, Celina; Spranger, Stephanie; Addor, Marie‐Claude; Mcheik, Jiad N.; Oltra Benavent, Manuel; Cobben, Jan M.; Gillis, Lynette A.; Shealy, Amy G.; Deshpande, Charu; Bozorgmehr, Bita; Everman, David B.; Stattin, Eva‐Lena; Liebelt, Jan; Keller, Klaus‐Michael; Bert... Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗