Browsing by Author Nurnberg, Gudrun

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Issue DateTitleAuthor(s)Citation
2013A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotypingKumar, Kishore Raj; Arif, Beenish; Bruggemann, Anne; et al, Various; Fatima, Amara; Jamil, Ahmad Zeeshan; Nurnberg, Gudrun; Nurnberg, Peter; Seibler, Philip; Thiele, Holger; Vulinovic, Franca; Winkler, Susen; Northern Clinical School: Kolling InstituteA novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping, JAMA Neurology (formerly Archives of Neurology), vol.70, 6, 2013,pp 783-787
2011U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutationBarthelmes, Daniel; Berger, Wolfgang; Fliegauf, Manfred; Gaspar, Harald; Glaus, Esther; Neidhardt, John; Nurnberg, Gudrun; Nurnberg, Peter; Omran, Heymut; Schmid, Fabian; Central Clinical School: Ophthalmology & Eye HealthU1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation, Human Mutation, vol.32, 7, 2011,pp 815-824