1. Pure de novo partial trisomy 6p in a girl with craniosynostosis1. Issue 2 (10th January 2013) Authors: Varvagiannis, Konstantinos; Stefanidou, Amalia; Gyftodimou, Yolanda; Lord, Helen; Williams, Louise; Sarri, Catherine; Pandelia, Efi; Bazopoulou‐Kyrkanidou, Euterpe; Noakes, Charlotte; Lester, Tracy; Wilkie, Andrew O.M.; Petersen, Michael B. Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome—History Repeating Itself. Issue 5 (26th March 2013) Authors: Jay, Sally; Wiberg, Akira; Swan, Marc; Lester, Tracy; Williams, Louise J.; Taylor, Indira B.; Johnson, David; Wilkie, Andrew O.M. Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗