1. Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum. Issue 7 (29th April 2014) Authors: Keppler‐Noreuil, Kim M.; Sapp, Julie C.; Lindhurst, Marjorie J.; Parker, Victoria E.R.; Blumhorst, Cathy; Darling, Thomas; Tosi, Laura L.; Huson, Susan M.; Whitehouse, Richard W.; Jakkula, Eveliina; Grant, Ian; Balasubramanian, Meena; Chandler, Kate E.; Fraser, Jamie L.; Gucev, Zoran; Crow, Yanic... Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration. (12th November 2018) Authors: Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik‐Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán‐Vega, Francisco J; Pena, Loren ... Journal: EMBO journal Issue: Volume 37:Number 23(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗