1. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Issue 5 (23rd March 2018) Authors: Calmels, Nadege; Botta, Elena; Jia, Nan; Fawcett, Heather; Nardo, Tiziana; Nakazawa, Yuka; Lanzafame, Manuela; Moriwaki, Shinichi; Sugita, Katsuo; Kubota, Masaya; Obringer, Cathy; Spitz, Marie-Aude; Stefanini, Miria; Laugel, Vincent; Orioli, Donata; Ogi, Tomoo; Lehmann, Alan Robert Journal: Journal of medical genetics Issue: Volume 55:Issue 5(2018) Page Start: 329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗