1. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?. Issue 4 (16th February 2017) Authors: El Chehadeh, S.; Touraine, R.; Prieur, F.; Reardon, W.; Bienvenu, T.; Chantot‐Bastaraud, S.; Doco‐Fenzy, M.; Landais, E.; Philippe, C.; Marle, N.; Callier, P.; Mosca‐Boidron, A.‐L.; Mugneret, F.; Le Meur, N.; Goldenberg, A.; Guerrot, A.‐M.; Chambon, P.; Satre, V.; Coutton, C.; Jouk, P.‐S. Journal: Clinical genetics Issue: Volume 91:Issue 4(2017) Page Start: 576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. RELN and VLDLR mutations underlie two distinguishable clinico‐radiological phenotypes. Issue 6 (29th April 2016) Authors: Valence, S.; Garel, C.; Barth, M.; Toutain, A.; Paris, C.; Amsallem, D.; Barthez, M.‐A.; Mayer, M.; Rodriguez, D.; Burglen, L. Journal: Clinical genetics Issue: Volume 90:Issue 6(2016) Page Start: 545 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. New insights in genetic diagnosis of congenital/very early-onset ataxia using new-generation sequencing. (June 2017) Authors: Burglen, L.; Haye, D.; Valence, S.; Afenjar, A.; Chantot-Bastaraud, S.; Rougeot, C.; Riquet, A.; Garel, C.; Rodriguez, D. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Issue 3 (4th October 2017) Authors: Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.‐L.; Guët, A.; Xavier, J. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Extremely severe vermis hypoplasia: a good clue for pontocerebellar hypoplasia type 8 diagnosis. (June 2017) Authors: Haye, D.; Perrin, L.; Valence, S.; Rodriguez, D.; Burglen, L. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic approach and therapeutic management of children affected by congenital cerebellar disorders. (June 2017) Authors: Belleville Goffeney, J.; Paris, C.; Bernard, E.; Boucher, E.; Billon Grand, N.C.; Pastor Harper, D.; Ridley, A.; Burglen, L.; Amsallem, D. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗