Lisbeth Tranebjærg
Professor emeritus.
1 - 1 out of 1Page size: 10
- 1997
- Published
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
Schwarz, M., Sørensen, N., Hansen, F. J., Hertz, J. M., Nørby, S., Tranebjærg, Lisbeth & Skovby, F., 1997, In: Human Molecular Genetics. 6, 1, p. 99-104Research 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