Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
51 - 60 out of 113Page size: 10
  1. 2013
  2. Published

    Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

    Husu, E., Hove, H., Farholt, S., Bille, M., Tranebjærg, Lisbeth, Vogel, I. & Kreiborg, Sven, 2013, In: Clinical Genetics. 83, 2, p. 125-134 10 p.

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

  3. Published

    Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation

    Cif, L., Gonzalez, V., Garcia-Ptacek, S., James, S., Boetto, J., Seychelles, A., Roujeau, T., Moura De Ribeiro, A. M., Sillon, M., Mondain, M., Coubes, P. & Tranebjærg, Lisbeth, 2013, In: Movement disorders : official journal of the Movement Disorder Society. 28, 6, p. 737-738 2 p.

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

  4. Published

    Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics

    van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., Howard, H. C., Cambon-Thomsen, A., Knoppers, B. M., Meijers-Heijboer, H., Scheffer, H., Tranebjærg, Lisbeth, Dondorp, W., de Wert, G. M. W. R., Public, E. & Committee, P. P., 2013, In: European Journal of Human Genetics. 21, 6, p. 580-584 5 p.

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

  5. 2012
  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

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