1. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022) Authors: Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. Issue 10 (24th July 2015) Authors: Doummar, Diane; Mignot, Cyril; Apartis, Emmanuelle; Villard, Laurent; Rodriguez, Diana; Chantot‐Bastauraud, Sandra; Burglen, Lydie Journal: Movement disorders Issue: Volume 30:Issue 10(2015) Page Start: 1431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations. (8th December 2015) Authors: Chen, Dong-Hui; Méneret, Aurélie; Friedman, Jennifer R.; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S.; Stessman, Holly A.; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y.; Damon-Perrière, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki... Journal: Neurology Issue: Volume 85:Number 23(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions. Issue 8 (9th June 2017) Authors: Mathieu, Marie‐Laure; Demily, Caroline; Chantot‐Bastaraud, Sandra; Afenjar, Alexandra; Mignot, Cyril; Andrieux, Joris; Gerard, Marion; Catala‐Mora, Jaume; Jouk, Pierre Simon; Labalme, Audrey; Edery, Patrick; Sanlaville, Damien; Rossi, Massimiliano Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016) Authors: Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Issue 5 (20th January 2021) Authors: Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; Petit, Florence; Dard, Rodolphe; Roume, Joelle; Mazereeuw‐Hautier, Juliette; Chassaing, Nicolas; Lacombe, Didier; Morice‐Picard, Fanny; Toutain, Annick; Arpin, Stéphanie; Boccara, Olivia; Touraine, Renaud; Blanchet, Patricia; Coubes, Christine; ... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures. (26th April 2019) Authors: Denis, Julien; Villeneuve, Nathalie; Cacciagli, Pierre; Mignon‐Ravix, Cecile; Lacoste, Caroline; Lefranc, Jeremie; Napuri, Sylvia; Damaj, Lena; Villega, Frederic; Pedespan, Jean‐Michel; Moutton, Sebastien; Mignot, Cyril; Doummar, Diane; Lion‐François, Laurence; Gataullina, Svetlana; Dulac, Olivie... Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: 845 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Issue 12 (27th September 2017) Authors: Schiff, Manuel; Roda, Céline; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anaïs; Brice, Alexis; Bruneel, Arnaud; Buissonnière, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Dai... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Congenital immobility and stiffness related to biallelic ATAD1 variants. (December 2020) Authors: Bunod, Roxane; Doummar, Diane; Whalen, Sandra; Keren, Boris; Chantot-Bastaraud, Sandra; Maincent, Kim; Villy, Marie-Charlotte; Mayer, Michèle; Rodriguez, Diana; Burglen, Lydie; Léger, Pierre-Louis; Kieffer, François; Martin, Isabelle; Héron, Delphine; Buratti, Julien; Isapof, Arnaud; Afenjar, Ale... Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021) Authors: Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L... Journal: Epilepsia Issue: Volume 62:issue 7(2021) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗