Lisbeth Tranebjærg
Professor emeritus.
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- 2005
- Published
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
Hansen, Lars, Eiberg, Hans Rudolf Lytchoff, Barrett, T., Bek, T., Kjærsgaard, P., Tranebjærg, Lisbeth & Rosenberg, T., 2005, In: European Journal of Human Genetics. 13, 12, p. 1275-1284Research 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
Published -
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