학술논문
'학술논문'
에서 검색결과 539건 | 목록
180~190
Academic Journal
Nguyen, K.; Busa, T.; Sigaudy, S.; Bernard, R.; Malzac, P.; Missirian, C.; Popovici, C.; Philip, N.; Putoux, A.; Cordier, M.P.; Till, M.; Labalme, A.; Edery, P.; Sanlaville, D.; Chabrol, B.; Michel-Calemard, L.; Julia, S.
In: Clinical Genetics . (Clinical Genetics, In Press, 2014)
Academic Journal
Poulat, A.-L.; Lesca, G.; Sanlaville, D.; Blanchard, G.; Lion-François, L.; Rougeot, C.; Des Portes, V.; Ville, D.
In: European Journal of Paediatric Neurology . (European Journal of Paediatric Neurology, March 2014, 18(2):176-182)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, June 2014, 164(6):1571-1575)
Academic Journal
Lehalle, D.; Guimier, A.; Radford, I.; Romana, S.; Lyonnet, S.; Amiel, J.; Colleaux, L.; de Pontual, L.; Sanlaville, D.; Plouvier, E.; Leblanc, T.; Galmiche, L.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, May 2014, 164(5):1310-1317)
Academic Journal
Aref-Eshghi, E.; Kerkhof, J.; Pedro, V.P.; France, G.D.; Barat-Houari, M.; Ruiz-Pallares, N.; Andrau, J.-C.; Lacombe, D.; Van-Gils, J.; Fergelot, P.; Dubourg, C.; Cormier-Daire, V.; Rondeau, S.; Lecoquierre, F.; Saugier-Veber, P.; Nicolas, G.; Lesca, G.; Chatron, N.; Sanlaville, D.; Vitobello, A.; Faivre, L.; Thauvin-Robinet, C.; Laumonnier, F.; Raynaud, M.; Alders, M.; Mannens, M.; Henneman, P.; Hennekam, R.C.; Velasco, G.; Francastel, C.; Ulveling, D.; Ciolfi, A.; Pizzi, S.; Tartaglia, M.; Heide, S.; Héron, D.; Mignot, C.; Keren, B.; Whalen, S.; Afenjar, A.; Bienvenu, T.; Campeau, P.M.; Rousseau, J.; Levy, M.A.; Brick, L.; Kozenko, M.; Balci, T.B.; Siu, V.M.; Stuart, A.; Kadour, M.; Masters, J.; Takano, K.; Kleefstra, T.; de Leeuw, N.; Field, M.; Shaw, M.; Gecz, J.; Ainsworth, P.J.; Lin, H.; Rodenhiser, D.I.; Friez, M.J.; Tedder, M.; Lee, J.A.; DuPont, B.R.; Stevenson, R.E.; Skinner, S.A.; Schwartz, C.E.; Genevieve, D.; Sadikovic, B.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 June 2021, 108(6):1161-1163)
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
Academic Journal
Lesca, G.; Boggio, D.; Labalme, A.; Sanlaville, D.; Edery, P.; Moizard, M.-P.; Raynaud, M.; Bussy, G.; Des Portes, V.; Hu, H.; Ropers, H.-H.; Kalscheuer, V.M.; Haas, S.A.; Lespinasse, J.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, December 2013, 161(12):3063-3071)
Academic Journal
Houdayer, F.; Labalme, A.; Cordier, M.-P.; Dupuis-Girod, S.; Lesca, G.; Till, M.; Sanlaville, D.; Edery, P.; Rossi, M.; Gargiulo, M.; Frischmann, M.; Decullier, E.
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, November 2013, 56(11):585-590)
Academic Journal
Tessereau, C.; Buisson, M.; Monnet, N.; Imbert, M.; Barjhoux, L.; Sinilnikova, O.M.; Mazoyer, S.; Conseiller, E.; Ceppi, M.; Schluth-Bolard, C.; Sanlaville, D.
In: PLoS ONE . (PLoS ONE, 11 October 2013, 8(10))
Academic Journal
Michot, C.; Poisson, S.; Kayirangwa, H.; Pelet, A.; Le Quan Sang, K.H.; Le Merrer, M.; Cormier-Daire, V.; Amiel, J.; Lyonnet, S.; Corsini, C.; Sanchez, E.; Willems, M.; Pinson, L.; Sarda, P.; Geneviève, D.; Sanlaville, D.; Till, M.; Cordier, M.-P.; Alix, E.; Baumann, C.; Toutain, A.; Héron, D.; Philip, N.; Busa, T.; Moncla, A.; Holder, M.; Faivre, L.; Odent, S.; Fradin, M.; Delrue, M.-A.; Lacombe, D.; Jacquemont, M.-L.; Goldenberg, A.; Gilbert-Dussardier, B.; Roume, J.; Jacquette, A.; Isidor, B.; Giuliano, F.; Burglen, L.; Schaefer, E.; Alembick, Y.; Doray, B.
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, October 2013, 56(10):556-560)
Academic Journal
Dimassi, S.; Labalme, A.; Lesca, G.; Cordier, M.-P.; Edery, P.; Sanlaville, D.; Schluth-Bolard, C.; Andrieux, J.; Boute, O.; Neut, D.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, October 2013, 161(10):2564-2569)
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[AR] Sanlaville, D.
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