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A novel strategy combining array-CGH, whole-exome sequencing and in utero electroporation in rodents to identify causative genes for brain malformations by Conti, V, Carabalona, A, Pallesi-Pocachard, E, Leventer, R, Schaller, F, Parrini, E, Deparis, A, Watrin, F, Buhler, E, Novara, F, Lise, S, Pagnamenta, A, Kini, U, Taylor, J, Zuffardi, O, Represa, A, Keays, D, Guerrini, R, Falace, A, Cardoso, C
Published 2017Journal article -
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. by Conti, V, Carabalona, A, Pallesi-Pocachard, E, Parrini, E, Leventer, R, Buhler, E, McGillivray, G, Michel, F, Striano, P, Mei, D, Watrin, F, Lise, S, Pagnamenta, A, Taylor, J, Kini, U, Clayton-Smith, J, Novara, F, Zuffardi, O, Dobyns, W, Scheffer, I, Robertson, S, Berkovic, S, Represa, A, Keays, D, Cardoso, C
Published 2013Journal article -
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. by Sharp, A, Mefford, H, Li, K, Baker, C, Skinner, C, Stevenson, R, Schroer, R, Novara, F, De Gregori, M, Ciccone, R, Broomer, A, Casuga, I, Wang, Y, Xiao, C, Barbacioru, C, Gimelli, G, Bernardina, B, Torniero, C, Giorda, R, Regan, R, Murday, V, Mansour, S, Fichera, M, Castiglia, L, Failla, P
Published 2008Journal article