Lisbeth Tranebjærg
Professor emeritus.
1 - 3 out of 3Page size: 10
- 2006
- Published
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment
Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A. & Tranebjærg, Lisbeth, 2006, In: European Journal of Human Genetics. 14, 10, p. 1097-1105 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function
Bryan, K. E., Wen, K. K., Zhu, M., Rendtorff, N. D., Feldkamp, M., Tranebjærg, Lisbeth, Friderici, K. H. & Rubenstein, P. A., 2006, In: Journal of Biological Chemistry. 281, 29, p. 20129-20139 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues
Soini, S., Ibarreta, D., Anastasiadou, V., Ayme, S., Braga, S., Cornel, M., Coviello, D. A., Evers-Kiebooms, G., Geraedts, J., Gianaroli, L., Harper, J., Kosztolanyi, G., Lundin, K., Rodrigues-Cerezo, E., Sermon, K., Sequeiros, J., Tranebjærg, Lisbeth & Kaariainen, H., 2006, In: European Journal of Human Genetics. 14, 5, p. 588-645 57 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 1571395
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Research output: Contribution to journal › Journal article › Research › peer-review
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179
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Usher syndrome in Denmark: mutation spectrum and some clinical observations
Research output: Contribution to journal › Journal article › Research › peer-review
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154
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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Research output: Contribution to journal › Journal article › Research › peer-review
Published