Lisbeth Tranebjærg
Professor emeritus.
111 - 113 out of 113Page size: 10
- 1998
- Published
Machado-Joseph disease in three Scandinavian families
Løkkegaard, T., Nielsen, J. E., Hasholt, Lis Frydenreich, Fenger, K., Werdelin, L., Tranebjærg, Lisbeth, Lauritzen, Martin, Colding-Jørgensen, E., Grønbech-Jensen, M., Henriksen, O. A. & Sørensen, S. A., 1998, In: Journal of Neurological Sciences. 156, 2, p. 152-157Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Non-disjunction of chromosome 18
Bugge, Merete, Collins, A., Petersen, M. B., Fisher, J., Brandt, C. A., Hertz, J. M., Tranebjærg, Lisbeth, de Lozier-Blanchet, C., Nicolaides, P., Brøndum-Nielsen, K., Morton, N. & Mikkelsen, M., 1998, In: Human Molecular Genetics. 7, 4, p. 661-669Research output: Contribution to journal › Journal article › Research › peer-review
- 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
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
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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