1. Corpus callosum agenesis with clinically normal people caused by DCC mutations. Prenatal implication. (June 2017) Authors: Billette de Villemeur, T.; Valence, S.; Heron, D.; Heide, S.; Keren, B.; Nava, C.; des Portes, V.; Garel, C.; Blondiaux, E.; Afenjar, A.; Mignot, C.; Rastetter, A.; Depienne, C.; Moutard, M.-L. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Mapping of chromosomal balanced rearrangements by whole-genome sequencing identifies genes involved in epilepsy. (June 2017) Authors: Masson, J.; Diguet, F.; Rollat-Farnier, P.A.; Mazoyer, S.; Lesca, G.; Kremer, V.; Flori, E.; Portnoï, M.F.; Siffroi, J.P.; Valence, S.; Till, M.; Edery, P.; Sanlaville, D.; Schluth-Bolard, C. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Poor tolerance of ketogenic diet for suspicion of PDH deficiency: What about another diagnosis?. (June 2017) Authors: Nouguès, M.C.; Guët, A.; Fazzio, M.; Danekova, N.; Valence, S.; Billette de Villemeur, T.; Garel, C.; Rodriguez, D.; Boutron, A. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e134 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?. (July 2018) Authors: de Rooy, R.L.P.; Halbertsma, F.J.; Struijs, E.A.; van Spronsen, F.J.; Lunsing, R.J.; Schippers, H.M.; van Hasselt, P.M.; Plecko, B.; Wohlrab, G.; Whalen, S.; Benoist, J.F.; Valence, S.; Mills, P.B.; Bok, L.A. Journal: European journal of paediatric neurology Issue: Volume 22:Number 4(2018:Jul.) Page Start: 662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗