1. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Issue 8 (8th June 2009) Authors: Furuichi, T; Kayserili, H; Hiraoka, S; Nishimura, G; Ohashi, H; Alanay, Y; Lerena, J C; Aslanger, A D; Koseki, H; Cohn, D H; Superti-Furga, A; Unger, S; Ikegawa, S Journal: Journal of medical genetics Issue: Volume 46:Issue 8(2009) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗