1. Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy. Issue 5 (18th June 2015) Authors: Malfatti, Edoardo; Chaves, Marcelo; Bellance, Remi; Viou, Mai Thao; Sarrazin, Elisabeth; Fardeau, Michel; Romero, Norma B. Journal: Muscle & nerve Issue: Volume 52:Issue 5(2015:Nov.) Page Start: 895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Issue 7 (10th April 2020) Authors: Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard... Journal: Journal of medical genetics Issue: Volume 57:Issue 7(2020) Page Start: 466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10. Issue 9 (20th May 2014) Authors: Pingault, Veronique; Pierre‐Louis, Laurence; Chaoui, Asma; Verloes, Alain; Sarrazin, Elisabeth; Brandberg, Goran; Bondurand, Nadege; Uldall, Peter; Manouvrier‐Hanu, Sylvie Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2344 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗