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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Alternative splicing of genes associated with retinitis pigmentosa - pathogenic mechanisms and therapeutic approaches (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-28114
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Genotyping Microarray for CSNB-Associated Genes Investigative Ophthalmology & Visual Science, 12, 5919–5926. https://doi.org/10.1167/iovs.09-3548
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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness American Journal of Human Genetics, 85, 720–729. https://doi.org/10.1016/j.ajhg.2009.10.013
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Norrin Signaling in Norrie Disease and Allelic Disorders (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-28115
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Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms Circulation, 120, 983–991. https://doi.org/10.1161/CIRCULATIONAHA.108.843516
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Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect Environ Health Perspect, 117, 1420–1427. https://doi.org/10.1289/ehp.0800430
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Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes Human Mutation, 30, 1355–1364. https://doi.org/10.1002/humu.21058
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Severe phenotype with cis-acting heterozygous PMP22 mutations Clinical Genetics, 75, 286–289. https://doi.org/10.1111/j.1399-0004.2008.01120.x
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Management of Patients With Aortic Dissection: New Insights Deutsches Ärzteblatt International, 171–172. https://doi.org/10.3238/arztebl.2009.0171b
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Polar body biopsy for Curschmann–Steinert disease and successful pregnancy following embryo vitrification Reproductive Biomedicine Online, 18, 815–820. https://doi.org/10.1016/S1472-6483(10)60031-4
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Pharmacogenetics of Modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep Clinical Pharmacology and Therapeutics, 85, 296–304. https://doi.org/10.1038/clpt.2008.222
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Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA Human Mutation, 30, 255–263. https://doi.org/10.1002/humu.20861
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Differential gene expression in Ndph knockout mice in retinal development Investigative Ophthalmology & Visual Science, 50, 906–916. https://doi.org/10.1167/iovs.08-1731
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Joint effect of obesity and TNFA variability on asthma: two international cohort studies European Respiratory Journal, 33, 1003–1009. https://doi.org/10.1183/09031936.00140608
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A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability Journal of Applied Genetics, 50, 405–410. https://doi.org/10.1007/BF03195701
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Novel mutations in the folliculin gene associated with spontaneous pneumothorax European Respiratory Journal, 32, 1316–1320. https://doi.org/10.1183/09031936.00132707
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SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations Clinical Chemistry, 54, 1331–1338. https://doi.org/10.1373/clinchem.2007.102798
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Mouse models of norrie disease In L. M. Chalupa & R. W. Williams (Eds.), Eye, Retina, and Visual System of the Mouse (pp. 527–537). Harvard University Press. http://mitpress.mit.edu/catalog/item/default.asp?ttype=2&tid=11633
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A common NYX mutation in Flemish patients with X-linked CSNB The British Journal of Ophthalmology, 93, 692–696. https://doi.org/10.1136/bjo.2008.143727
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15/01/2026 ~BK