1. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Issue 6 (23rd February 2017) Authors: Ranza, E.; Huber, C.; Levin, N.; Baujat, G.; Bole‐Feysot, C.; Nitschke, P.; Masson, C.; Alanay, Y.; Al‐Gazali, L.; Bitoun, P.; Boute, O.; Campeau, P.; Coubes, C.; McEntagart, M.; Elcioglu, N.; Faivre, L.; Gezdirici, A.; Johnson, D.; Mihci, E.; Nur, B.G. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 868 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes. (26th March 2014) Authors: Piard, J.; Aral, B.; Vabres, P.; Holder‐Espinasse, M.; Mégarbané, A.; Gauthier, S.; Capra, V.; Pierquin, G.; Callier, P.; Baumann, C.; Pasquier, L.; Baujat, G.; Martorell, L.; Rodriguez, A.; Brady, A. F.; Boralevi, F.; González‐Enseñat, M. A.; Rio, M.; Bodemer, C.; Philip, N. Journal: Clinical genetics Issue: Volume 87:Number 3(2015:Mar.) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗