1. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
- Author
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Schueler, Markus, Halbritter, Jan, Phelps, Ian G, Braun, Daniela A, Otto, Edgar A, Porath, Jonathan D, Gee, Heon Yung, Shendure, Jay, OʼRoak, Brian J, Lawson, Jennifer A, Nabhan, Marwa M, Soliman, Neveen A, Doherty, Dan, Hildebrandt, Friedhelm, Yalcinkaya, F, Bakkaloglu, S, Ozaltin, F, Comak, E, Krull, F, Schmitz-Hübner, Rupprecht, H, Muller, D, Dahlem, P, Hoppe, B, Wolfe, M, Weber, M, Vester, U, Bonzel, K, Nikolay, J, Hansmann, I, Wiefel, M, Orth, U, Pfleiderer, H, Pape, L, Morlot, Ehrich, J, Tonshoff, B, Schindera, F, Hoefele, J, Griebel, M, Broeking, E, Konrad, M, Radke, M, Brandis, M, Kirchhoff, A, Feygina, V, Springate, J, Ahmadzdeh, S, Gipson, D, Becker, A, Dharnidharka, V, Mark, P, Srivaths, P, Wilson, A, Kamil, E, Why, S, Pan, C, Kashtan, C, D’Alessandri, C, Trachtman, H, Kaplan, B, Joseph, M, Weiss, R, Thomas, S, Newberry, L, Koyun, M, Fathy, H, RybiSzuminska, A, Szczepanska, M, Dolezel, Z, Malina, M, Seeman, T, Honzik, T, Ferreira, P, Ferguson, M, Harvey, E, Chong, K, Sandford, R, Josifova, D, Bockenhauer, D, Sayer, J, Johnson, C, Senguttuvan, P, Pela, I, Knops, N, Levart, T, Neuhaus, T, Ayuso, C, Kindi, A, Knoers, N, Antignac, C, Radauer, W, Genzani, C, Berg, U, Klingenberg, C, Jones, C, Savarirayan, R, and Kausman, J
- Published
- 2016
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