Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 8 out of 8Page size: 10
  1. 2012
  2. Published

    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    Bergman, J. E. H., Janssen, N., van der Sloot, A. M., de Walle, H. E. K., Schoots, J., Rendtorff, N. D., Tranebjærg, Lisbeth, Hoefsloot, L. H., van Ravenswaaij-Arts, C. M. A. & Hofstra, R. M. W., Aug 2012, In: Human Mutation. 33, 8, p. 1251-1260 10 p.

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

  3. Published

    Mutation update on the CHD7 gene involved in CHARGE syndrome

    Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjærg, Lisbeth, Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A. & Hoefsloot, L. H., Aug 2012, In: Human Mutation. 33, 8, p. 1149-1160 12 p.

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

  4. Published

    GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

    Homøe, Preben, Koch, A., Rendtorff, N. D., Lodahl, M., Andersen, T., Andersen, S., Eiberg, Hans Rudolf Lytchoff, Nielsen, I. & Tranebjærg, Lisbeth, Jun 2012, In: International Journal of Audiology. 51, 6, p. 433-6 4 p.

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

  5. Published

    "Mitochondrial diseases caused by mutations in inner membrane chaperone proteins"Book title: "Mitochondrial disorders Caused by Nuclear Genes"

    Tranebjærg, Lisbeth, 2012, "Mitochondrial diseases causes by mutatons in inner membrane chaperone proteins". Wong, L-J. (ed.).

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

  6. Published

    Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

    Engl, G., Florian, S., Tranebjærg, Lisbeth & Rapaport, D., 2012, In: Human Molecular Genetics. 21, 2, p. 287-99 13 p.

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

  7. Published

    Jervell and Lange-Nielsen Syndrome in: GeneReviews at GeneTests

    Tranebjærg, Lisbeth, 2012, In: Medical Genetics Information Resource.

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

  8. Published

    Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    Yuca, S. A., Rendtorff, N. D., Boulahbel, H., Lodahl, M., Tranebjærg, Lisbeth, Cesur, Y., Dogan, M., Yilmaz, C., Akgun, C. & Acikgoz, M., 2012, In: European Journal of Medical Genetics. 55, 1, p. 37-42 6 p.

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

  9. Published

    The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

    Ha, A. D., Parratt, K. L., Rendtorff, N. D., Lodahl, M., Ng, K., Rowe, D. B., Sue, C. M., Hayes, M. W., Tranebjærg, Lisbeth & Fung, V. S. C., 2012, In: Movement Disorders. 27, 8, p. 1034-40 7 p.

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

ID: 1571395