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Number of items: 8.

Swirski, Sebastian; Röger, Carsten; Pienkowska-Schelling, Aldona; Ihlenburg, Cynthia; Fischer, Gösta; May, Oliver; Vorm, Mariann; Owczarek-Lipska, Marta; Neidhardt, John (2018). A novel C-terminal mutation in Gsdma3 (C+/H−) leads to alopecia and corneal inflammatory response in mice. Investigative Ophthalmology & Visual Science [IOVS], 59(1):561-571.

Da Costa, Romain; Röger, Carsten; Segelken, Jasmin; Barben, Maya; Grimm, Christian; Neidhardt, John (2016). A novel method combining vitreous aspiration and intravitreal AAV2/8 injection results in retina-wide transduction in adult mice. Investigative Ophthalmology & Visual Science [IOVS], 57(13):5326-5334.

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.

Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

Da Costa, Romain; Glaus, Esther; Tiwari, Amit; Kloeckener-Gruissem, Barbara; Berger, Wolfgang; Neidhardt, John (2015). Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Therapy, 22(5):413-420.

Haghighi, Alireza; Tiwari, Amit; Piri, Niloofar; Nürnberg, Gudrun; Saleh-Gohari, Nasrollah; Haghighi, Amirreza; Neidhardt, John; Nürnberg, Peter; Berger, Wolfgang (2014). Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE, 9(11):e112747.

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte M; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics, 22(1):99-104.

Abplanalp, Jeanette; Laczko, Endre; Philip, Nancy J; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F; Munier, Francis L; Verrey, François; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Human Molecular Genetics, 22(16):3218-3226.

This list was generated on Tue Sep 17 16:17:39 2019 CEST.