Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 6 out of 6Page size: 10
  1. 2015
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

ID: 1571395