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Oligo-astrocytoma in LZTR1-related Noonan syndrome by Jacquinet, A, Bonnard, A, Capri, Y, Martin, D, Sadzot, B, Bianchi, E, Servais, L, Sacré, J-P, Cavé, H, Verloes, A
Published 2019Journal article -
2
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis by Chatron, N, Cassinari, K, Quenez, O, Baert-Desurmont, S, Bardel, C, Buisine, M, Calpena, E, Capri, Y, Galbany, J, Diguet, F, Edery, P, Isidor, B, Labalme, A, Le Caignec, C, Lévy, J, Lecoquierre, F, Lindenbaum, P, Pichon, O, Rollat-Farnier, P, Simonet, T, Saugier-Veber, P, Tabet, A, Toutain, A, Wilkie, A, Lesca, G, Sanlaville, D, Nicolas, G, Schluth-Bolard, C
Published 2019Journal article -
3
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature by Piard, J, Hawkes, L, Milh, M, Villard, L, Borgatti, R, Romaniello, R, Fradin, M, Capri, Y, Héron, D, Nougues, M, Nava, C, Arsene, O, Shears, D, Taylor, J, Pagnamenta, A, Taylor, J, Sogawa, Y, Johnson, D, Firth, H, Vasudevan, P, Jones, G, Nguyen-Morel, M, Busa, T, Roubertie, A, Van Den Born, M, Brischoux-Boucher, E, Koenig, M, Mignot, C, Ddd Study, Kini, U, Philippe, C
Published 2018Journal article -
4
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice by Martin, E, Enriquez, A, Sparrow, D, Humphreys, D, McInerney-Leo, A, Leo, P, Duncan, E, Iyer, K, Greasby, J, Ip, E, Giannoulatou, E, Sheng, D, Wohler, E, Dimartino, C, Amiel, J, Capri, Y, Lehall, D, Mory, A, Wilnai, Y, Lebenthal, Y, Gharavi, A, Krzemień, G, Miklaszewska, M, Steiner, R, Raggio, C, Blank, R, Feldman, H, Rasouly, H, Sobreira, N, Jobling, R, Gordon, C, Giampietro, P, Dunwoodie, S, Chapman, G
Published 2020Journal article