31. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
32. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
33. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. Issue 8 (23rd July 2010) Authors: El Chehadeh, Salima; Aral, Bernard; Gigot, Nadège; Thauvin-Robinet, Christel; Donzel, Anne; Delrue, Marie-Ange; Lacombe, Didier; David, Albert; Burglen, Lydie; Philip, Nicole; Moncla, Anne; Cormier-Daire, Valérie; Rio, Marlène; Edery, Patrick; Verloes, Alain; Bonneau, Dominique; Afenjar, Alexandr... Journal: Journal of medical genetics Issue: Volume 47:Issue 8(2010) Page Start: 549 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
34. Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies. Issue 6 (7th August 2020) Authors: Haouari, Walid; Dubail, Johanne; Lounis‐Ouaras, Samra; Prada, Pierre; Bennani, Rizk; Roseau, Charles; Huber, Céline; Afenjar, Alexandra; Colin, Estelle; Vuillaumier‐Barrot, Sandrine; Seta, Nathalie; Foulquier, François; Poüs, Christian; Cormier‐Daire, Valérie; Bruneel, Arnaud Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 6(2020) Page Start: 1349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
35. SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. Issue 11 (17th June 2016) Authors: Tlemsani, Camille; Luscan, Armelle; Leulliot, Nicolas; Bieth, Eric; Afenjar, Alexandra; Baujat, Geneviève; Doco-Fenzy, Martine; Goldenberg, Alice; Lacombe, Didier; Lambert, Laetitia; Odent, Sylvie; Pasche, Jérôme; Sigaudy, Sabine; Buffet, Alexandre; Violle-Poirsier, Céline; Briand-Suleau, Audrey;... Journal: Journal of medical genetics Issue: Volume 53:Issue 11(2016) Page Start: 743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
36. The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. Issue 3 (14th January 2016) Authors: Richard, Anne Claire; Rovelet‐Lecrux, Anne; Delaby, Elsa; Charbonnier, Camille; Thiruvahindrapuram, Bhooma; Hatchwell, Eli; Eis, Peggy S.; Afenjar, Alexandra; Gilbert Dussardier, Brigitte; Scherer, Stephen W.; Betancur, Catalina; Campion, Dominique Journal: American journal of medical genetics Issue: Volume 171:Issue 3(2016) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
37. Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect. Issue 10 (15th May 2019) Authors: Fiévet, Alice; Bellanger, Dorine; Valence, Stéphanie; Mobuchon, Lenha; Afenjar, Alexandra; Giuliano, Fabienne; Dubois d'Enghien, Catherine; Parfait, Béatrice; Pedespan, Jean‐Michel; Auger, Nathalie; Rieunier, Guillaume; Collet, Agnès; Burglen, Lydie; Stoppa‐Lyonnet, Dominique; Stern, Marc‐Henri Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
38. Variable clinical expression in patients with mosaicism for KCNQ2 mutations. (10th May 2015) Authors: Milh, Mathieu; Lacoste, Caroline; Cacciagli, Pierre; Abidi, Affef; Sutera‐Sardo, Julie; Tzelepis, Ilias; Colin, Estelle; Badens, Catherine; Afenjar, Alexandra; Coeslier, Anne Dieux; Dailland, Thomas; Lesca, Gaetan; Philip, Nicole; Villard, Laurent Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
39. Variable clinical expression in patients with mosaicism for KCNQ2 mutations. (10th May 2015) Authors: Milh, Mathieu; Lacoste, Caroline; Cacciagli, Pierre; Abidi, Affef; Sutera‐Sardo, Julie; Tzelepis, Ilias; Colin, Estelle; Badens, Catherine; Afenjar, Alexandra; Coeslier, Anne Dieux; Dailland, Thomas; Lesca, Gaetan; Philip, Nicole; Villard, Laurent Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
40. Whole exome sequencing in non progressive congenital ataxia consanguineous families: 3 genes lumping with early infantile epileptic encephalopathies. (June 2017) Authors: Valence, Stéphanie; Garel, Catherine; Chantot Bastaraud, Sandra; Afenjar, Alexandra; Barthez, Marie Anne; Bednarek, Nathalie; Goizet, Cyril; Lacombe, Didier; Milh, Mathieu; Moutard, Marie Laure; Robin, Stéphanie; Roubertie, Agathe; Rougeot, Christelle; Sarda, Pierre; Toutain, Annick; Villard, Lau... Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗