학술논문
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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus
Academic Journal
Piard, J.; Maldergem, L.V.; Béreau, M.; Richard, P.; XiangWei, W.; Liu, N.; Xu, Y.; Myers, S.J.; Traynelis, S.F.; Yuan, H.; Wirth, T.; Anheim, M.; Amsallem, D.; Buisson, L.; Chelly, J.; Raynaud, M.
In: Movement Disorders . (Movement Disorders, 1 July 2020, 35(7):1224-1232)
Academic Journal
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, April 2020, 63(4))
Academic Journal
Giabicani, E.; Houang, M.; Le Bouc, Y.; Netchine, I.; Brioude, F.; Thibaud, N.; Bérard, L.; Steunou, V.; Abi Habib, W.; Azzi, S.; Lam, B.; Thomas, D.; Willems, M.; Chantot-Bastaraud, S.; Bony-Trifunovic, H.; Brachet, C.; Brischoux-Boucher, E.; Piard, J.; Caldagues, E.; Guemas, I.; Coutant, R.; Cuvelier, M.-L.; Gelwane, G.; Storey, C.; Perrin, L.; Isidor, B.; Jeandel, C.; Lespinasse, J.; Naud-Saudreau, C.; Jesuran-Perelroizen, M.; Sechter, C.; Souchon, P.-F.; Rossignol, S.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 March 2020, 57(3):160-168)
Academic Journal
Janin, A.; Chanavat, V.; Albert, E.; Nony, S.; Millat, G.; Rollat-Farnier, P.-A.; Bardel, C.; Nguyen, K.; Chevalier, P.; Eicher, J.-C.; Faivre, L.; Piard, J.
In: Human Mutation . (Human Mutation, 1 February 2020, 41(2):465-475)
Academic Journal
Meerschaut, I.; De Coninck, S.; Steyaert, W.; Coucke, P.; De Paepe, A.; Symoens, S.; Callewaert, B.; Barnicoat, A.; Lees, M.; Male, A.M.; Bayat, A.; Benedicenti, F.; Stanzial, F.; Berland, S.; Blair, E.M.; de Burca, A.; Breckpot, J.; Destrée, A.; Lederer, D.; Ribaï, P.; García-Miñaúr, S.; Green, A.J.; Hanna, B.C.; Keymolen, K.; Koopmans, M.; Longman, C.; Lynch, S.A.; McKenzie, F.; Migeotte, I.; Mihci, E.; Nur, B.; Petit, F.; Piard, J.; Plasschaert, F.S.; Rauch, A.; Pacheco, I.S.; Stolte-Dijkstra, I.; Valenzuela, I.; Varghese, V.; Vasudevan, P.C.; Wakeling, E.; Wallgren-Pettersson, C.; De Wolf, D.
In: Genetics in Medicine . (Genetics in Medicine, 1 January 2020, 22(1):124-131)
Academic Journal
Mottet, N.; Metz, J.-P.; Toubin, C.; Riethmuller, D.; Cabrol, C.; Van Maldergem, L.; Piard, J.; Arbez-Gindre, F.; Valduga, M.; McElreavey, K.
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, September 2019, 62(9))
Academic Journal
Capri, Y.; Strullu, M.; Vial, Y.; Vignal, C.; Cavé, H.; Verloes, A.; Flex, E.; Carpentieri, G.; Krumbach, O.H.F.; Rezaei Adariani, S.; Kazemein Jasemi, N.S.; Dvorsky, R.; Ahmadian, M.R.; Pantaleoni, F.; Lepri, F.R.; Tartaglia, M.; Cecchetti, S.; Lißewski, C.; Schanze, D.; Brinkmann, J.; Zenker, M.; Piard, J.; Goh, E.S.-Y.; Chong, K.; Stieglitz, E.; Meyer, J.; Kuechler, A.; Bramswig, N.C.; Sacharow, S.; Kensah, G.; Cuturilo, G.; Monaghan, K.G.; Vincent, L.M.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 June 2019, 104(6):1223-1232)
Academic Journal
Piard, J.; Brischoux-Boucher, E.; Hawkes, L.; Shears, D.; Kini, U.; Milh, M.; Villard, L.; Busa, T.; Borgatti, R.; Romaniello, R.; Fradin, M.; Capri, Y.; Héron, D.; Mignot, C.; Nougues, M.-C.; Nava, C.; Arsene, O.T.; Taylor, J.; Pagnamenta, A.; Taylor, J.C.; Sogawa, Y.; Johnson, D.; Firth, H.; Vasudevan, P.; Jones, G.; Nguyen-Morel, M.-A.; Roubertie, A.; van den Born, M.; Koenig, M.; Philippe, C.
In: Genetics in Medicine . (Genetics in Medicine, 1 June 2019, 21(6):1308-1318)
Academic Journal
Colombo, E.A.; Gervasini, C.; Mutlu-Albayrak, H.; Shafeghati, Y.; Balasar, M.; Piard, J.; Van Maldergem, L.; Gentilini, D.; Di Blasio, A.M.; Larizza, L.
In: Frontiers in Pediatrics . (Frontiers in Pediatrics, 2019, 7(MAY))
Academic Journal
In: Actualite Chimique . (Actualite Chimique, October 2018, (433):37-40)
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[AR] Piard, J.
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