Lisbeth Tranebjærg
Professor emeritus.
- 2007
- Published
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
Martins, S., Calafell, F., Gaspar, C., Wong, V. C. N., Silveira, I., Nicholson, G. A., Brunt, E. R., Tranebjærg, L., Stevanin, G., Hsieh, M., Soong, B. W., Loureiro, L., Duerr, A., Tsuji, S., Watanabe, M., Jardim, L. B., Giunti, P., Riess, O., Ranum, L. P. W., Brice, A. & 4 others, , 2007, In: Archives of Neurology. 64, 10, p. 1502-1509 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Audiologisk genetik
Tranebjærg, Lisbeth & Arlinger, S., 2007, Nordisk lärobok i audiologi. Bromma: Nordic Forum for Dance Research, Vol. 4.3. p. -Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research
- Published
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses
Sanggaard, K. M., Rendtorff, N. D., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K. O., Lage, K. & Tranebjærg, Lisbeth, 2007, In: European Journal of Human Genetics. 15, 11, p. 1121-1131 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome
Hinson, J. T., Fantin, V. R., Schonberger, J., Breivik, N., Siem, G., McDonough, B., Sharma, P., Keogh, I., Godinho, R., Santos, F., Esparza, A., Nicolau, Y., Selvaag, E., Cohen, B. H., Hoppel, C. L., Tranebjærg, Lisbeth, Eavey, R. D., Seidman, J. G. & Seidman, C. E., 2007, In: New England Journal of Medicine. 356, 8, p. 809-819 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Non-disjunction of chromosome
Bugge, Merete, Collins, A., Hertz, J. M., Eiberg, Hans Rudolf Lytchoff, Lundsteen, C., Brandt, C. A., Hansen, C., deLozier, C. D., Lespinasse, J., Tranebjærg, Lisbeth, Hahnemann, J. M. D., Rasmussen, K., Bruun-Petersen, G., Duprez, L., Tommerup, Niels & Petersen, M. B., 2007, In: Human Molecular Genetics. 16, 16, p. 2004-2010 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Otopathology in Mohr-Tranebjaerg syndrome
Bahmad, F., Merchant, S. N., Nadol, J. B. & Tranebjærg, Lisbeth, 2007, In: Laryngoscope. 117, 7, p. 1202-1208 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13
Bennetts, J. S., Rendtorff, N. D., Simpson, F., Tranebjærg, Lisbeth & Wicking, C., 2007, In: Developmental Dynamics. 236, 3, p. 843-852 9 p.Research 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
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 -
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