Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
31 - 40 out of 113Page size: 10
  1. 2016
  2. Published

    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Shzeena, D., Rendtorff, N. D., Tranebjærg, Lisbeth, Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A., Rosenberg, T., Jensen, H. & Møller, L. B., Sep 2016, In: Molecular Genetics & Genomic Medicine. 4, 5, p. 527-539 13 p.

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

  3. Published

    Individual Hearing Loss: Characterization, Modelling, Compensation Strategies

    Santurette, S., Dau, T., Christensen-Dalsgaard, J., Tranebjærg, Lisbeth, Andersen, T. & Poulsen, T., 26 Aug 2016, In: Trends in hearing. 20, p. 1-2 2 p.

    Research output: Contribution to journal › Editorial › Research › peer-review

  4. Published

    Phenotypic subregions within the split-hand/foot malformation 1 locus

    Rasmussen, Malene Bøgehus, Kreiborg, Sven, Jensen, P., Bak, M., Mang, Y., Lodahl, M., Budtz-Joergensen, Esben, Tommerup, Niels, Tranebjærg, Lisbeth & Rendtorff, N. D., Mar 2016, In: Human Genetics. 135, 3, p. 345-457 13 p.

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

  5. 2015
  6. Published

    A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    Nyegaard, M., Rendtorff, N. D., Nielsen, M. S., Corydon, T. J., Demontis, D., Starnawska, A., Hedemand, A., Buniello, A., Niola, F., Overgaard, M. T., Leal, S. M., Ahmad, W., Wikman, F. P., Petersen, K. B., Crueger, D. G., Oostrik, J., Kremer, H., Tommerup, N., Froedin, M., Steel, K. P. & 2 others, Tranebjærg, Lisbeth & Borglum, A. D., Jul 2015, In: P L o S Genetics. 11, 7, p. 1-25 25 p., e1005386.

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

  7. Published

    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L. & 2 others, van El, C. G. & Cornel, M. C., 1 Apr 2015, In: European Journal of Human Genetics. 3 p.

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

  8. Published

    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L. & 3 others, van El, C. G., Cornel, M. C. & European Society of Human Genetics, E. S. O. H. G., 2015, In: European Journal of Human Genetics. 23, 11, p. 1438-50 13 p.

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

  9. Published

    Partial USH2A deletions contribute to Usher syndrome in Denmark

    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, Anders, M. Mehrjouy, M., Bak, M., Tommerup, Niels, Tranebjærg, Lisbeth, Rosenberg, T., Jensen, H. & Møller, L. B., 2015, In: European Journal of Human Genetics. 23, p. 1646-1651 6 p.

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

  10. Published

    Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

    Frykholm, C., Klar, J., Arnesson, H., Rehnman, A., Lodahl, M., Wedén, U., Dahl, N., Tranebjærg, Lisbeth & Rendtorff, N. D., 2015, In: Gene. 563, 1, p. 10-16 7 p.

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

  11. Published

    Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

    Severin, F., Borry, P., Cornel, M. C., Daniels, N., Fellmann, F., Victoria Hodgson, S., Howard, H. C., John, J., Kääriäinen, H., Kayserili, H., Kent, A., Koerber, F., Kristoffersson, U., Kroese, M., Lewis, C., Marckmann, G., Meyer, P., Pfeufer, A., Schmidtke, J., Skirton, H. & 2 others, Tranebjærg, Lisbeth & Rogowski, W. H., 2015, In: European Journal of Human Genetics. 23, p. 1-7 7 p.

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

  12. 2014
  13. Published

    Genomet og syns- og høresansen

    Tranebjærg, Lisbeth, Rendtorff, N. D. & Brøndum-Nielsen, K., 10 Nov 2014, In: Ugeskrift for Laeger. 176, 23, p. 2160-2163 4 p., V06140365 .

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

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