1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018) Authors: Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Issue 11 (28th August 2014) Authors: Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, N... Journal: Journal of medical genetics Issue: Volume 51:Issue 11(2014) Page Start: 724 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Issue 12 (27th November 2012) Authors: Gordon, Christopher T; Petit, Florence; Oufadem, Myriam; Decaestecker, Charles; Jourdain, Anne-Sophie; Andrieux, Joris; Malan, Valérie; Alessandri, Jean-Luc; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Delobel, Bruno; Dieterich, Klaus; Gaillard, Dominique; Gonza... Journal: Journal of medical genetics Issue: Volume 49:Issue 12(2012) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?. Issue 1 (December 2015) Authors: Ehret, Julia; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schön, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michèle; Lacaze, Elodie; Plessis,... Journal: Molecular cytogenetics Issue: Volume 8:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome. (14th January 2015) Authors: Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗