Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 5 out of 5Page size: 10
  1. 2010
  2. Published

    Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

    Sun, C., Van Ghelue, M., Tranebjærg, Lisbeth, Thyssen, F., Nilssen, O., Torbergsen, T., Sun, C., Van Ghelue, M., Tranebjærg, Lisbeth, Thyssen, F., Nilssen, O. & Torbergsen, T., 15 Dec 2010, In: Dysmorphology and Clinical Genetics.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

    Skirton, H., Lewis, C., Kent, A., Coviello, D. A., Members of Eurogentest Unit 6 and ESHG Education Committee, M. O. E. U. 6. A. E. E. C. & Tranebjærg, Lisbeth, 1 Sep 2010, In: European Journal of Human Genetics. 18, 9, p. 972-7 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

    Morisada, N., Rendtorff, N. D., Nozu, K., Morishita, T., Miyakawa, T., Matsumoto, T., Hisano, S., Iijima, K., Tranebjærg, L., Shirahata, A., Matsuo, M., Kusuhara, K., Morisada, N., Rendtorff, N. D., Nozu, K., Morishita, T., Miyakawa, T., Matsumoto, T., Hisano, S., Iijima, K. & 4 others, Tranebjærg, Lisbeth, Shirahata, A., Matsuo, M. & Kusuhara, K., 1 Jul 2010, In: Pediatric Nephrology. 25, 7, p. 1343-8 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations

    Topsakal, V., Hilgert, N., van Dinther, J., Tranebjærg, Lisbeth, Rendtorff, N. D., Zarowski, A., Offeciers, E., Van Camp, G., van de Heyning, P., Topsakal, V., Hilgert, N., van Dinther, J., Tranebjærg, Lisbeth, Rendtorff, N. D., Zarowski, A., Offeciers, E., Van Camp, G. & van de Heyning, P., 1 Jan 2010, In: Audiology and Neuro-Otology. 15, 4, p. 211-20 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Usher Syndrome: Diagnostic utility of the Asper Biotech's Genotyping Microarray

    Tranebjærg, Lisbeth, Rendtorff, N., Lodahl, M., Stensland, H. & Möller, A. R., 2010, Usher Syndrome: Pathogenesis, Diagnosis and Therapy. Ahuja, S. (ed.). Nova Science Publishers

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

ID: 1571395