1. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. Issue 6 (22nd February 2017) Authors: Lefebvre, M.; Duffourd, Y.; Jouan, T.; Poe, C.; Jean‐Marçais, N.; Verloes, A.; St‐Onge, J.; Riviere, J.‐B.; Petit, F.; Pierquin, G.; Demeer, B.; Callier, P.; Thauvin‐Robinet, C.; Faivre, L.; Thevenon, J. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗