1. Human mucin genes: genomic organization and expression of MUC4, MUC5AC and MUC5B. (November 1995) Authors: Porchet, N.; Pigny, P.; Buisine, M.-P.; Debailleul, V.; Degand, P.; Laine, A.; Aubert, J.-P. Journal: Biochemical Society transactions Issue: Volume 23:Number 4(1995) Page Start: 800 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. (12th September 2013) Authors: Petit, F.; Escande, F.; Jourdain, A.S.; Porchet, N.; Amiel, J.; Doray, B.; Delrue, M.A.; Flori, E.; Kim, C.A.; Marlin, S.; Robertson, S.P.; Manouvrier‐Hanu, S.; Holder‐Espinasse, M. Journal: Clinical genetics Issue: Volume 86:Number 3(2014:Sep.) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families. (15th July 2013) Authors: Petit, F.; Jourdain, A.‐S.; Andrieux, J.; Baujat, G.; Baumann, C.; Beneteau, C.; David, A.; Faivre, L.; Gaillard, D.; Gilbert‐Dussardier, B.; Jouk, P.‐S.; Le Caignec, C.; Loget, P.; Pasquier, L.; Porchet, N.; Holder‐Espinasse, M.; Manouvrier‐Hanu, S.; Escande, F. Journal: Clinical genetics Issue: Volume 85:Number 5(2014:May) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗