1. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype. (20th December 2012) Authors: Carmichael, H; Shen, Y; Nguyen, TT; Hirschhorn, JN; Dauber, A Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗