Lisbeth Tranebjærg
Professor emeritus.
1 - 6 out of 6Page size: 10
- 2009
- Published
WFS1-Related Disorders
Tranebjærg, Lisbeth, Barrett, T. & Rendtorff, N. D., 24 Feb 2009Research output: Other contribution › Net publication - Internet publication › Research › peer-review
- Published
Deafness-Dystonia-Optic Neuronopathy Syndrome: GeneReviews [Internet] at Gene Tests: Medical Information Resource [database online]
Tranebjærg, Lisbeth, Pagon, R. A., Bird, T. C., Dolan, C. R. & Stephens, K., 2009, SeattleResearch output: Other contribution › Research
- Published
Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics
Cornel, M., Evers-Kiebooms, G., Ayme, S., Braga, S., Bricarelli, F., Hodgson, S., Kosztolany, G., Lubinski, J., Ozgüc, M., Patch, C., Sequeiros, J., Tranebjærg, Lisbeth, van Heyningen, V., Borry, P., Dierickx, K., Clarke, A. & European Society of Human Genetics, E. S. O. H. G., 2009, In: European Journal of Human Genetics. 17, 6, p. 720-1 1 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations
Borry, P., Evers-Kiebooms, G., Cornel, M. C., Clarke, A., Dierickx, K., Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG), P. A. P. P. C. (. O. T. E. S. O. H. G. (. & Tranebjærg, Lisbeth, 2009, In: European Journal of Human Genetics. 17, 6, p. 711-9 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter
Kirchhoff, M., Bisgaard, A., Stoeva, R., Dimitrov, B., Gillessen-Kaesbach, G., Fryns, J., Rose, H., Grozdanova, L., Ivanov, I., Keymolen, K., Fagerberg, C., Tranebjærg, Lisbeth, Skovby, F. & Stefanova, M., 2009, In: American Journal of Medical Genetics. Part A. 149A, 5, p. 894-905 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Related Disorders: GeneReviews [Internet] at Gene Tests: Medical Information Resource [database online]
Tranebjærg, Lisbeth, ´Barrett, T., Rendtorff, N. D., Pagon, R. A., Bird, T. C., Dolan, C. R. & Stephens, K., 2009, SeattleResearch output: Other contribution › Research
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
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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