1. Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome. (2nd April 2015) Authors: Posey, Jennifer E.; Burrage, Lindsay C.; Campeau, Philippe M.; Lu, James T.; Eble, Tanya N.; Kratz, Lisa; Schlesinger, Alan E.; Gibbs, Richard A.; Lee, Brendan H.; Nagamani, Sandesh C.S. Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel EED mutation in patient with Weaver syndrome. Issue 2 (21st November 2016) Authors: Cooney, Erin; Bi, Weimin; Schlesinger, Alan E.; Vinson, Sherry; Potocki, Lorraine Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗