1. De novo exon 1 missense mutations of SKI and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review. Issue 3 (19th December 2013) Authors: Au, P.Y. Billie; Racher, Hilary E.; Graham, John M.; Kramer, Nancy; Lowry, R. Brian; Parboosingh, Jillian S.; Innes, A. Micheil Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 676 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. Issue 2 (19th December 2013) Authors: Au, P.Y. Billie; Argiropoulos, Bob; Parboosingh, Jillian S.; Micheil Innes, A. Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 441 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗