UZH-Logo

Maintenance Infos

Browse by Creators - Zurich Open Repository and Archive

Navigate back| Up a level
Export as
Number of items: 4.

Tiwari, Amit; Lemke, J; Altmueller, J; Thiele, Holger; Glaus, E; Fleischhauer, J; Nürnberg, P; Neidhardt, John; Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS ONE, 11(7):e0158692.

Hilton, E; Johnston, J; Whalen, S; Okamoto, N; Hatsukawa, Y; Nishio, J; Kohara, H; Hirano, Y; Mizuno, S; Torii, C; Kosaki, K; Manouvrier, S; Boute, O; Perveen, R; Law, C; Moore, A; Fitzpatrick, D; Lemke, J; Fellmann, F; Debray, F G; Dastot-Le-Moal, F; Gerard, M; Martin, J; Bitoun, P; Goossens, M; Verloes, A; Schinzel, A; Bartholdi, D; Bardakjian, T; Hay, B; Jenny, K; Johnston, K; Lyons, M; Belmont, J W; Biesecker, L G; Giurgea, I; Black, G (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17(10):1325-1335.

Unger, S; Böhm, D; Kaiser, F J; Kaulfuss, S; Borozdin, W; Buiting, K; Burfeind, P; Böhm, J; Barrionuevo, F; Craig, A; Borowski, K; Keppler-Noreuil, K; Schmitt-Mechelke, T; Steiner, B; Bartholdi, D; Lemke, J; Mortier, G; Sandford, R; Zabel, B; Superti-Furga, A; Kohlhase, J (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3):287-289.

Zeitz, C; Gross, A K; Leifert, D; Kloeckener-Gruissem, B; McAlear, S D; Lemke, J; Neidhardt, G; Berger, W (2008). Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Investigative Ophthalmology and Visual Science, 49(9):4105-4114.

This list was generated on Fri Jul 21 16:11:08 2017 CEST.