Birgitte Rode Diness

Birgitte Rode Diness

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 4 out of 4Page size: 10
  1. 2018
  2. Published

    A complex phenotype in a family with a pathogenic SOX3 missense variant

    Jelsig, A. M., Diness, Birgitte Rode, Kreiborg, Sven, Main, Katharina Maria, Larsen, V. A. & Hove, H., Mar 2018, In: European Journal of Medical Genetics. 61, 3, p. 168-172

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

  3. Published

    A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

    Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G., Meester, J. & 22 others, Maystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, Birgitte Rode, Risom, L., Scurr, I., Hilhorst-Hofstee, Y., Morisaki, T., Richer, J., Désir, J., Kempers, M., Rideout, A. L., Horne, G., Bennett, C., Rahikkala, E., Vandeweyer, G., Alaerts, M., Verstraeten, A., Dietz, H., Van Laer, L. & Loeys, B., 2018, In: Human Mutation. 39, 5, p. 621-634 14 p.

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

  4. Published

    First reported adult patient with TARP syndrome: A case report

    Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, Birgitte Rode, Petersen, M. B. & Nielsen, I. K., 2018, In: American Journal of Medical Genetics. Part A. 176, 12, p. 2915-2918 4 p.

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

  5. Published

    Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

    Diness, Birgitte Rode, Risom, L., Frandsen, T. L., Hansen, B., Andersen, M. K., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2018, In: Genes Chromosomes and Cancer. 57, 12, p. 670-674 5 p.

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

ID: 156582356