Expanding CEP290 mutational spectrum in ciliopathies

Travaglini, L; Brancati, F; ATTIE BITACH, T; Audollent, S; Bertini, E; Kaplan, J; Perrault, I; Iannicelli, M; Mancuso, B; Rigoli, L; Rozet, Jm; Swistun, D; Tolentino, J; Dallapiccola, B; Gleeson, Jg; Valente, Em; INTERNATIONAL JSRD STUDY, Group; Zankl, A; Leventer, R; GRATTAN SMITH, P; Janecke, A; D'Hooghe, M; Sznajer, Y; VAN COSTER, R; Demerleir, L; Dias, K; Moco, C; Moreira, A; Kim, Ca; Maegawa, G; Petkovic, D; ABDEL SALAM, Gm; ABDEL ALEEM, A; Zaki, Ms; Marti, I; QUIJANO ROY, S; Sigaudy, S; DE LONLAY, P; Romano, S; Touraine, R; Koenig, M; LAGIER TOURENNE, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; KITSIOU TZELI, S; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, Sr; Udani, V; Stuart, B; Magee, A; Lev, D; Michelson, M; BEN ZEEV, B; Fischetto, R; Benedicenti, F; Stanzial, F; Borgatti, R; Accorsi, P; Battaglia, S; Fazzi, Elisa Maria; Giordano, L; Pinelli, L; Boccone, L; Bigoni, S; Ferlini, A; Donati, Ma; Caridi, G; Divizia, Mt; Faravelli, F; Ghiggeri, G; Pessagno, A; Briguglio, M; Briuglia, S; Salpietro, Cd; Tortorella, G; Adami, A; Castorina, P; Lalatta, F; Marra, G; Riva, D; Scelsa, B; Spaccini, L; Uziel, G; DEL GIUDICE, E; Laverda, Am; Ludwig, K; Permunian, A; Suppiej, A; Signorini, S; Uggetti, C; Battini, R; DI GIACOMO, M; Cilio, Mr; DI SABATO, Ml; Leuzzi, V; Parisi, P; Pollazzon, M; Silengo, M; DE VESCOVI, R; Greco, D; Romano, C; Cazzagon, M; Simonati, A; AL TAWARI, Aa; Bastaki, L; Mégarbané, A; SABOLIC AVRAMOVSKA, V; DE JONG, Mm; Stromme, P; Koul, R; Rajab, A; Azam, M; Barbot, C; MARTORELL SAMPOL, L; Rodriguez, B; PASCUAL CASTROVIEJO, I; Teber, S; Anlar, B; Comu, S; Karaca, E; Kayserili, H; Yüksel, A; Akcakus, M; AL GAZALI, L; Sztriha, L; Nicholl, D; Woods, Cg; Bennett, C; Hurst, J; Sheridan, E; Barnicoat, A; Hennekam, R; Lees, M; Blair, E; Bernes, S; Sanchez, H; Clark, Ae; Demarco, E; Donahue, C; Sherr, E; Hahn, J; Sanger, Td; Gallager, Te; Dobyns, Wb; Daugherty, C; Krishnamoorthy, Ks; Sarco, D; Walsh, Ca; Mckanna, T; Milisa, J; Chung, Wk; DE VIVO, Dc; Raynes, H; Schubert, R; Seward, A; Brooks, Dg; Goldstein, A; Caldwell, J; Finsecke, E; Maria, Bl; Holden, K; Cruse, Rp; Swoboda, Kj; Viskochil, D.