1. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. Issue 6 (16th February 2016) Authors: Mouden, C.; Dubourg, C.; Carré, W.; Rose, S.; Quelin, C.; Akloul, L.; Hamdi‐Rozé, H.; Viot, G.; Salhi, H.; Darnault, P.; Odent, S.; Dupé, V.; David, V. Journal: Clinical genetics Issue: Volume 89:Issue 6(2016) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Fetal phenotypes in otopalatodigital spectrum disorders. Issue 3 (29th October 2015) Authors: Naudion, S.; Moutton, S.; Coupry, I.; Sole, G.; Deforges, J.; Guerineau, E.; Hubert, C.; Deves, S.; Pilliod, J.; Rooryck, C.; Abel, C.; Le Breton, F.; Collardeau‐Frachon, S.; Cordier, M.P.; Delezoide, A.L.; Goldenberg, A.; Loget, P.; Melki, J.; Odent, S.; Patrier, S. Journal: Clinical genetics Issue: Volume 89:Issue 3(2016) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation. Issue 12 (24th September 2014) Authors: Milosevic, J.; El Khattabi, L.; Roubergue, A.; Coussement, A.; Doummar, D.; Cuisset, L.; Le Tessier, D.; Flageul, B.; Viot, G.; Lebbar, A.; Dupont, J.M. Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3180 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗