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Number of items: 7.

Heeringa, S F; Chernin, G; Chaki, M; Zhou, W; Sloan, A J; Ji, Z; Xie, L X; Salviati, L; Hurd, T W; Vega-Warner, V; Killen, P D; Raphael, Y; Ashraf, S; Ovunc, B; Schoeb, D S; McLaughlin, H M; Airik, R; Vlangos, C N; Gbadegesin, R; Hinkes, B; Saisawat, P; Trevisson, E; Doimo, M; Casarin, A; Pertegato, V; Giorgi, G; Prokisch, H; Rötig, A; Nürnberg, G; Becker, C; Wang, S; Ozaltin, F; Topaloglu, R; Bakkaloglu, A; Bakkaloglu, S A; Müller, D; Beissert, A; Mir, S; Berdeli, A; Varpizen, S; Zenker, M; Matejas, V; Santos-Ocaña, C; Navas, P; Kusakabe, T; Kispert, A; Akman, S; Soliman, N A; Krick, S; Mundel, P; Reiser, J; Nürnberg, P; Clarke, C F; Wiggins, R C; Faul, C; Hildebrandt, F (2011). COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Journal of Clinical Investigation, 121(5):2013-2024.

Dafinger, C; Liebau, M C; Elsayed, S M; Hellenbroich, Y; Boltshauser, E; Korenke, G C; Fabretti, F; Janecke, A R; Ebermann, I; Nürnberg, G; Nürnberg, P; Zentgraf, H; Koerber, F; Addicks, K; Elsobky, E; Benzing, T; Schermer, B; Bolz, H J (2011). Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. Journal of Clinical Investigation, 121(7):2662-2667.

Schmid, F; Glaus, E; Barthelmes, D; Fliegauf, M; Gaspar, H; Nürnberg, G; Nürnberg, P; Omran, H; Berger, W; Neidhardt, J (2011). U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human Mutation, 32(7):815-824.

Rutsch, F; Gailus, S; Miousse, I R; Suormala, T; Sagné, C; Toliat, M R; Nürnberg, G; Wittkampf, T; Buers, I; Sharifi, A; Stucki, M; Becker, C; Baumgartner, M; Robenek, H; Marquardt, T; Höhne, W; Gasnier, B; Rosenblatt, D S; Fowler, B; Nürnberg, P (2009). Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nature Genetics, 41(2):234-239.

Bergmann, C; Fliegauf, M; Brüchle, N O; Frank, V; Olbrich, H; Kirschner, J; Schermer, B; Schmedding, I; Kispert, A; Kränzlin, B; Nürnberg, G; Becker, C; Grimm, T; Girschick, G; Lynch, S A; Kelehan, P; Senderek, J; Neuhaus, T J; Stallmach, T; Zentgraf, H; Nürnberg, P; Gretz, N; Lohaus, C; Lienkamp, S; Schäfer, T; Walz, G; Benzing, T; Zerres, K; Omran, H (2008). Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. American Journal of Human Genetics, 82(4):959-70.

Kloeckener-Gruissem, B; Vandekerckhove, K; Nürnberg, G; Neidhardt, J; Zeitz, C; Nürnberg, P; Schipper, I; Berger, W (2008). Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. American Journal of Human Genetics, 82(3):772-779.

Budde, B S; Namavar, Y; Barth, P G; Poll-The, B T; Nürnberg, G; Becker, C; van Ruissen, F; Weterman, M A J; Fluiter, K; te Beek, E T; Aronica, E; van der Knaap, M S; Höhne, W; Toliat, M R; Crow, Y J; Steinling, M; Voit, T; Roelens, F; Brussel, W; Brockmann, K; Kyllerman, M; Boltshauser, E; Hammersen, G; Willemsen, M A; Basel-Vanagaite, L; Krägeloh-Mann, I; de Vries, L S; Sztriha, L; Muntoni, F; Ferrie, C D; Battini, R; Hennekam, R C M; Grillo, E; Beemer, F A; Stoets, L M E; Wollnik, B; Nürnberg, P; Baas, F (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9):1113-1118.

This list was generated on Sat Oct 21 13:04:39 2017 CEST.