1. Mapping of chromosomal balanced rearrangements by whole-genome sequencing identifies genes involved in epilepsy. (June 2017) Authors: Masson, J.; Diguet, F.; Rollat-Farnier, P.A.; Mazoyer, S.; Lesca, G.; Kremer, V.; Flori, E.; Portnoï, M.F.; Siffroi, J.P.; Valence, S.; Till, M.; Edery, P.; Sanlaville, D.; Schluth-Bolard, C. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations. (12th June 2013) Authors: Schaefer, E.; Lauer, J.; Durand, M.; Pelletier, V.; Obringer, C.; Claussmann, A.; Braun, J.‐J.; Redin, C.; Mathis, C.; Muller, J.; Schmidt‐Mutter, C.; Flori, E.; Marion, V.; Stoetzel, C.; Dollfus, H. Journal: Clinical genetics Issue: Volume 85:Number 5(2014:May) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. (5th April 2013) Authors: Marle, N.; Martinet, D.; Aboura, A.; Joly‐Helas, G.; Andrieux, J.; Flori, E.; Puechberty, J.; Vialard, F.; Sanlaville, D.; Fert Ferrer, S.; Bourrouillou, G.; Tabet, A.C.; Quilichini, B.; Simon‐Bouy, B.; Bazin, A.; Becker, M.; Stora, H.; Amblard, S.; Doco‐Fenzy, M.; Molina Gomes, D. Journal: Clinical genetics Issue: Volume 85:Number 3(2014:Mar.) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases. (22nd July 2014) Authors: Gruchy, N.; Vialard, F.; Blondeel, E.; Le Meur, N.; Joly‐Hélas, G.; Chambon, P.; Till, M.; Herbaut‐Graux, M.; Vigouroux‐Castera, A.; Coussement, A.; Lespinasse, J.; Amblard, F.; Jimenez, M.; Lebel Roy Camille, L.; Carré‐Pigeon, F.; Flori, E.; Mugneret, F.; Jaillard, S.; Yardin, C.; Harbuz, R. Journal: Prenatal diagnosis Issue: Volume 34:Number 12(2014:Dec.) Page Start: 1133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Sebocyte differentiation as a new target for acne therapy: an in vivo experience. (27th March 2020) Authors: Ottaviani, M.; Flori, E.; Mastrofrancesco, A.; Briganti, S.; Lora, V.; Capitanio, B.; Zouboulis, C.C.; Picardo, M. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 34:Number 8(2020) Page Start: 1803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗