Birgitte Rode Diness

Birgitte Rode Diness

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 24Page size: 10
  1. 2006
  2. Published

    Højdosis vitamin-A-tilskud sænker børnedødeligheden i lavindkomstlande - kan det blive bedre?

    Benn, C. S., Diness, Birgitte Rode, Fisker, A. B., Christoffersen, D. & Friis, Henrik, 2006, In: Ugeskrift for læger. 168 (25), p. 2442-5

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

  3. 2009
  4. Published

    Pre-pregnancy transabdominal cerclage

    Thuesen, Lea Langhoff, Diness, Birgitte Rode & Langhoff-Roos, J., 2009, In: Acta Obstetricia et Gynecologica Scandinavica. 88, 4, p. 483-6 3 p.

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

  5. 2014
  6. Published

    Genomet i kardiologien

    Bundgård, Henning, Diness, Birgitte Rode, Tfelt-Hansen, Jacob, Henriksen, F. L., Eschen, O., Skovby, F., Havndrup, O., Jensen, H. K. & Tybjærg-Hansen, Anne, 2014, In: Ugeskrift for Laeger. 176, 46, 5 p., V06140376.

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

  7. Published

    Grundig familieanamnese og et multidisciplinært samarbejde er vigtigt ved udredning af årsager til pludselig hjertedød

    Sørensen, C., Diness, Birgitte Rode, Hansen, Steen Holger, Bundgård, Henning & Steensberg, J., 10 Feb 2014, In: Ugeskrift for Laeger. 176, 7, p. V08130505

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

  8. 2017
  9. Published

    Prenatal genetic testing by late amniocentesis to guide delivery management in haemophilia carriers

    Ingerslev, M. D., Langhoff-Roos, J., Soegaard, K., Funding, Eva & Diness, Birgitte Rode, 2017, In: Haemophilia. 23, 5, p. e466-e468

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

  10. Published

    Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

    Diness, Birgitte Rode, Overbeck, Gritt, Hjortshøj, T. D., Hammer, T. B., Timshel, S., Sørensen, E. & McAllister, M., Oct 2017, In: Journal of Genetic Counseling. 26, 5, p. 1080–1089 10 p.

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

  11. 2018
  12. 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

  13. 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

  14. 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

  15. 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

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