Lisbeth Tranebjærg
Professor emeritus.
1 - 1 out of 1Page size: 10
- 2003
- Published
Deafness-Dystonia-Optic Neuronopathy Syndrome.
Tranebjærg, Lisbeth, 6 Feb 2003Research output: Other contribution › Net publication - Internet publication › 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
Published -
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