1. A case of Schöpf‐Schulz‐Passarge syndrome caused by c.1135C>T WNT10A missense mutation. (15th February 2017) Authors: Painsi, Clemens; Aubell, Kristina; Wolf, Peter; Hügel, Rainer; Lange‐Asschenfeldt, Bernhard Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 15:Number 4(2017) Page Start: 455 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Ein Fall von Schöpf‐Schulz‐Passarge‐Syndrom verursacht durch eine c.1135C>T WNT10A Missense‐Mutation. (April 2017) Authors: Painsi, Clemens; Aubell, Kristina; Wolf, Peter; Hügel, Rainer; Lange‐Asschenfeldt, Bernhard Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 15:Number 4(2017) Page Start: 454 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Issue 9 (30th June 2015) Authors: Addis, Laura; Ahn, Joo Wook; Dobson, Richard; Dixit, Abhishek; Ogilvie, Caroline M; Pinto, Dalila; Vaags, Andrea K; Coon, Hilary; Chaste, Pauline; Wilson, Scott; Parr, Jeremy R; Andrieux, Joris; Lenne, Bruno; Tumer, Zeynep; Leuzzi, Vincenzo; Aubell, Kristina; Koillinen, Hannele; Curran, Sarah; Ma... Journal: Human mutation Issue: Volume 36:Issue 9(2015:Sep.) Page Start: 842 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗