Lisbeth Tranebjærg
Professor emeritus.
1 - 1 out of 1Page size: 10
- 2000
- Published
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia
Lund, A., Udd, B., Juvonen, V., Andersen, P. M., Cederquist, K., Ronnevi, L., Sistonen, P., Sørensen, S. A., Tranebjærg, Lisbeth, Wallgren-Pettersson, C. & Savontaus, M., 2000, In: European Journal of Human Genetics. 8, 8, p. 631-636Research output: Contribution to journal › Journal article › Research › peer-review
ID: 1571395
Most downloads
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209
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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 -
186
downloads
Usher syndrome in Denmark: mutation spectrum and some clinical observations
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
166
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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