All publications
Disclaimer: on the specification of authors in ZORA
- In the below list, publications with fewer than 30 authors are transferred 1:1 to ZORA. No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
- For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. An "et al" is created in the same step. If UZH authors are omitted as a result, they are added at the end, after "et al".
- For the complete list of authors in order of publication, please use the text file on this website or the original publication on ZORA.
ZORA Publikationsliste
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Publikationen
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A Novel NYX Mutation Associated with X-Linked Congenital Stationary Night Blindness in a New Zealand Family Journal of Clinical & Experimental Ophthalmology, 2, 1000147. https://doi.org/10.4172/2155-9570.1000147
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Retinal degeneration: Molecular bases, relevance of splicing and therapeutic approaches (Habilitation, University of Zurich) https://doi.org/10.5167/uzh-59607
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Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD Investigative Ophthalmology & Visual Science, 52, 4694–4702. https://doi.org/10.1167/iovs.10-6080
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Determinants of change in airway reactivity over 11 years in the SAPALDIA population study European Respiratory Journal, 37, 492–500. https://doi.org/10.1183/09031936.00188609
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Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers Clinical and Experimental Allergy, 41, 1579–1586. https://doi.org/10.1111/j.1365-2222.2011.03807.x
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U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation Human Mutation, 32, 815–824. https://doi.org/10.1002/humu.21509
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Molecular basis of Marfan syndrome: In vitro and in silico analyses of exonic and intronic sequence variants in the FBN1 gene (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-61150
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Identification and treatment of splice defects in ciliary genes RPGR and BBS1 causing Retinitis pigmentosa (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-51232
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Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane Investigative Ophthalmology & Visual Science, 52, 6774–6784. https://doi.org/10.1167/iovs.10-6579
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Cardiovascular surgery in Marfan syndrome: implications of new molecular concepts in thoracic aortic disease Future Cardiology, 7, 557–569. https://doi.org/10.2217/fca.11.37
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Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells Molecular Therapy, 19, 936–941. https://doi.org/10.1038/mt.2011.7
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The molecular basis of human retinal and vitreoretinal diseases Progress in Retinal and Eye Research, 29, 335–375. https://doi.org/10.1016/j.preteyeres.2010.03.004
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ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype Investigative Ophthalmology & Visual Science, 51, 4253–4265. https://doi.org/10.1167/iovs.09-4655
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Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort Human Immunology, 71, 1154–1160. https://doi.org/10.1016/j.humimm.2010.08.008
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Alterations of the 5’untranslated region of SLC16A12 lead to age-related cataract. Investigative Ophthalmology & Visual Science, 51, 3354–3361. https://doi.org/10.1167/iovs.10-5193
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Mutation- and Tissue-Specific Alterations of RPGR Transcripts Investigative Ophthalmology & Visual Science, 51, 1628–1635. https://doi.org/10.1167/iovs.09-4031
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Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds Investigative Ophthalmology & Visual Science, 51, 1106–1115. https://doi.org/10.1167/iovs.08-2742
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Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency European Journal of Human Genetics, 18, 1315–1321. https://doi.org/10.1038/ejhg.2010.105
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Functional genetic variation of adenosine deaminase and the effects of sleep deprivation in healthy adults (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-43097
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Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression FASEB Journal, 24, 1714–1724. https://doi.org/10.1096/fj.09-140749
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15/01/2026 ~BK