Lisbeth Tranebjærg
Professor emeritus.
1 - 3 out of 3Page size: 10
- 2018
- Published
Adaptive Processes in Hearing
Santurette, S., Christensen-Dalsgaard, J., Tranebjærg, Lisbeth, Andersen, T., Poulsen, T. & Dau, T., 2018, In: Trends in Hearing. 22, p. 1-2 2331216518762261.Research output: Contribution to journal › Editorial › Research
- Published
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
Xu, L., Jensen, H., Johnston, J. J., Di Maria, E., Kloth, K., Cristea, I., Sapp, J. C., Darling, T. N., Huryn, L. A., Tranebjærg, Lisbeth, Cinotti, E., Kubisch, C., Rødahl, E., Bruland, O., Biesecker, L. G., Houge, G. & Bredrup, C., 2018, In: American Journal of Human Genetics. 103, 6, p. 976-983 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Tranebjærg, L., Strenzke, N., Lindholm, S., Rendtorff, N. D., Poulsen, H., Khandelia, H., Kopec, W., Lyngbye, T. J. B., Hamel, C., Delettre, C., Bocquet, B., Bille, M., Owen, H. H., Bek, T., Jensen, H., Østergaard, K., Möller, C., Luxon, L., Carr, L., Wilson, L. & 11 others, , 2018, In: Human Genetics. 137, 2, p. 111-127 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 1571395
Most downloads
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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
Published -
179
downloads
Usher syndrome in Denmark: mutation spectrum and some clinical observations
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
154
downloads
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Research output: Contribution to journal › Journal article › Research › peer-review
Published