Lisbeth Tranebjærg
Professor emeritus.
1 - 4 out of 4Page size: 10
- 2016
- Published
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
Hartel, B. P., Lofgren, M., Huygen, P. L. M., Guchelaar, I., Kort, N. L., Sadeghi, A. M., van Wijki, E., Tranebjærg, Lisbeth, Kremer, H., Kimberling, W. J., Cremers, C. W. R. J., Moller, C. & Pennings, R. J. E., Sep 2016, In: Hearing Research. 339, p. 60-68Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Usher syndrome in Denmark: mutation spectrum and some clinical observations
Shzeena, D., Rendtorff, N. D., Tranebjærg, Lisbeth, Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A., Rosenberg, T., Jensen, H. & Møller, L. B., Sep 2016, In: Molecular Genetics & Genomic Medicine. 4, 5, p. 527-539 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Individual Hearing Loss: Characterization, Modelling, Compensation Strategies
Santurette, S., Dau, T., Christensen-Dalsgaard, J., Tranebjærg, Lisbeth, Andersen, T. & Poulsen, T., 26 Aug 2016, In: Trends in hearing. 20, p. 1-2 2 p.Research output: Contribution to journal › Editorial › Research › peer-review
- Published
Phenotypic subregions within the split-hand/foot malformation 1 locus
Rasmussen, Malene Bøgehus, Kreiborg, Sven, Jensen, P., Bak, M., Mang, Y., Lodahl, M., Budtz-Joergensen, Esben, Tommerup, Niels, Tranebjærg, Lisbeth & Rendtorff, N. D., Mar 2016, In: Human Genetics. 135, 3, p. 345-457 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 1571395
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200
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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
Published -
155
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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