1. Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Issue 1 (17th May 2018) Authors: Baer, S.; Afenjar, A.; Smol, T.; Piton, A.; Gérard, B.; Alembik, Y.; Bienvenu, T.; Boursier, G.; Boute, O.; Colson, C.; Cordier, M.‐P.; Cormier‐Daire, V.; Delobel, B.; Doco‐Fenzy, M.; Duban‐Bedu, B.; Fradin, M.; Geneviève, D.; Goldenberg, A.; Grelet, M.; Haye, D. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1‐mutated patient's management. Issue 1 (22nd February 2017) Authors: Colson, C.; Aubry, E.; Cartigny, M.; Rémy, A.‐A.; Franquet, H.; Leroy, X.; Kéchid, G.; Lefèvre, C.; Besson, R.; Cools, M.; Spinoit, A.F.; Sultan, C.; Manouvrier, S.; Philibert, P.; Ghoumid, J. Journal: Clinical genetics Issue: Volume 92:Issue 1(2017) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗