1. CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma. (19th August 2019) Authors: Raynal, C.; Girodon, E.; Audrezet, M.P.; Cabet, F.; Pagin, A.; Reboul, M.P.; Dufernez, F.; Fergelot, P.; Bergougnoux, A.; Fanen, P.; Ferec, C.; Bienvenu, T. Journal: British journal of dermatology Issue: Volume 181:Number 5(2019) Page Start: 1097 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma. (1st November 2019) Authors: Raynal, C.; Girodon, E.; Audrezet, M.P.; Cabet, F.; Pagin, A.; Reboul, M.P.; Dufernez, F.; Fergelot, P.; Bergougnoux, A.; Fanen, P.; Ferec, C.; Bienvenu, T. Journal: British journal of dermatology Issue: Volume 181:Number 5(2019) Page Start: 1097 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma. Issue 4 (16th March 2017) Authors: Trimouille, A.; Barouk‐Simonet, E.; Charron, S.; Bouron, J.; Bernhard, J.‐C.; Lacombe, D.; Fergelot, P.; Rooryck, C. Journal: Clinical genetics Issue: Volume 92:Issue 4(2017) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗