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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Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man Journal of the European Academy of Dermatology and Venerology, 22, 897–898. https://doi.org/10.1111/j.1468-3083.2007.02530.x
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Circulating alpha1-antitrypsin in the general population: determinants and association with lung function Respiratory Research, 9, 35. https://doi.org/10.1186/1465-9921-9-35
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Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4 European Journal of Neuroscience, 27, 2619–2628. https://doi.org/10.1111/j.1460-9568.2008.06237.x
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Functional analysis of the Retinitis pigmentosa GTPase regulator(RPGR) gene (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-10252
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Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB Investigative Ophthalmology & Visual Science, 49, 4105–4114. https://doi.org/10.1167/iovs.08-1717
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Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria American Journal of Human Genetics, 82, 772–779. https://doi.org/10.1016/j.ajhg.2007.12.013
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Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing Molecular Vision, 14, 1081–1093. http://www.molvis.org/molvis/v14/a129/
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Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults Thorax, 63, 322–328. https://doi.org/10.1136/thx.2007.085555
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TNFA -308G>A in two international population-based cohorts and risk of asthma European Respiratory Journal, 32, 350–361. https://doi.org/10.1183/09031936.00155607
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Molecular bases of Marfan syndrome and related disorders (Habilitation, University of Zurich) https://doi.org/10.5167/uzh-10291
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Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genetic Counseling, 19, 319–330.
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Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers Environmental Health Perspectives, 116, 1494–1499. https://doi.org/10.1289/ehp.11402
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Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome Investigative Ophthalmology & Visual Science, 49, 4096–4104. https://doi.org/10.1167/iovs.08-2044
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Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly Biology of Reproduction, 79, 608–617. https://doi.org/10.1095/biolreprod.107.067454
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Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome Human Genetics, 122, 23–32. https://doi.org/10.1007/s00439-007-0371-x
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Identification and characterization of a novel RPGR isoform in human retina Human Mutation, 28, 797–807. https://doi.org/10.1002/humu.20521
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A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep Clinical Pharmacology and Therapeutics, 81, 692–698. https://doi.org/10.1038/sj.clpt.6100102
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Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking Human Mutation, 28, 771–780. https://doi.org/10.1002/humu.20499
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Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study Respiratory Research, 8, 2. https://doi.org/10.1186/1465-9921-8-2
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Development of a genotyping microarray for Usher syndrome Journal of Medical Genetics, 44, 153–160. https://doi.org/10.1136/jmg.2006.044784
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15/01/2026 ~BK