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 de novoADCY5 mutation causes early‐onset autosomal dominant chorea and dystonia. Issue 3 (27th December 2014) Authors: Carapito, Raphael; Paul, Nicodème; Untrau, Meiggie; Le Gentil, Marion; Ott, Louise; Alsaleh, Ghada; Jochem, Pierre; Radosavljevic, Mirjana; Le Caignec, Cédric; David, Albert; Damier, Philippe; Isidor, Bertrand; Bahram, Seiamak Journal: Movement disorders Issue: Volume 30:Issue 3(2015) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization1. Issue 10 (16th August 2013) Authors: Isidor, Bertrand; Geffroy, Loïc; de Courtivron, Benoît; Le Caignec, Cédric; Thiel, Christian T.; Mortier, Geert; Cormier‐Daire, Valérie; David, Albert; Toutain, Annick Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype. Issue 2 (7th February 2018) Authors: Vuillaume, Marie‐Laure; Jeanne, Médéric; Xue, Li; Blesson, Sophie; Denommé‐Pichon, Anne‐Sophie; Alirol, Servane; Brulard, Céline; Colin, Estelle; Isidor, Bertrand; Gilbert‐Dussardier, Brigitte; Odent, Sylvie; Parent, Philippe; Donnart, Audrey; Redon, Richard; Bézieau, Stéphane; Rondard, Philippe;... Journal: Annals of neurology Issue: Volume 83:Issue 2(2018) Page Start: 437 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. (3rd April 2019) Authors: Arthuis, Chloé J.; Nizon, Mathilde; Kömhoff, Martin; Beck, Bodo B.; Riehmer, Vera; Bihouée, Tiphaine; Bruel, Alexandra; Benbrik, Nadir; Winer, Norbert; Isidor, Bertrand Journal: Journal of obstetrics and gynaecology Issue: Volume 39:Number 3(2019) Page Start: 395 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory. (January 2016) Authors: Passemard, Sandrine; Verloes, Alain; Billette de Villemeur, Thierry; Boespflug-Tanguy, Odile; Hernandez, Karen; Laurent, Marion; Isidor, Bertrand; Alberti, Corinne; Pouvreau, Nathalie; Drunat, Séverine; Gérard, Bénédicte; El Ghouzzi, Vincent; Gallego, Jorge; Elmaleh-Bergès, Monique; Huttner, Wiel... Journal: Cortex Issue: Volume 74(2016) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory. (January 2016) Authors: Passemard, Sandrine; Verloes, Alain; Billette de Villemeur, Thierry; Boespflug-Tanguy, Odile; Hernandez, Karen; Laurent, Marion; Isidor, Bertrand; Alberti, Corinne; Pouvreau, Nathalie; Drunat, Séverine; Gérard, Bénédicte; El Ghouzzi, Vincent; Gallego, Jorge; Elmaleh-Bergès, Monique; Huttner, Wiel... Journal: Cortex Issue: Volume 74(2016) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. Issue 7 (8th April 2019) Authors: Ghesh, Leila; Vincent, Marie; Delemazure, Anne‐Sophie; Boyer, Julie; Corre, Pierre; Perez, Fabienne; Geneviève, David; Laplanche, Jean‐Louis; Collet, Corinne; Isidor, Bertrand Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1390 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. (2nd January 2019) Authors: Le Grignou, Marie; Bleriot, Alice; Nizon, Mathilde; Pacquement, Hélène; Houdayer, Claude; Thebaud, Estelle; Le Meur, Guylène; Isidor, Bertrand Journal: Ophthalmic genetics Issue: Volume 40:Number 1(2019) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. (23rd February 2020) Authors: Brunklaus, Andreas; Du, Juanjiangmeng; Steckler, Felix; Ghanty, Ismael I.; Johannesen, Katrine M.; Fenger, Christina Dühring; Schorge, Stephanie; Baez‐Nieto, David; Wang, Hao‐Ran; Allen, Andrew; Pan, Jen Q.; Lerche, Holger; Heyne, Henrike; Symonds, Joseph D.; Zuberi, Sameer M.; Sanders, Stephan; ... Journal: Epilepsia Issue: Volume 61:issue 3(2020) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗