Birgitte Rode Diness

Birgitte Rode Diness

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 2 out of 2Page size: 10
  1. 2020
  2. Published

    Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Graversen, L., Handrup, M. M., Irving, M., Hove, H., Diness, Birgitte Rode, Risom, L., Svaneby, D., Aagaard, M. M., Vogel, I., Gjørup, H., Davidsen, M., Hellfritzsch, M. B., Lauridsen, E. & Gregersen, P. A., Feb 2020, In: European Journal of Medical Genetics. 63, 2, 8 p., 103650.

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

  3. Published

    Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Diness, Birgitte Rode, Palmquist, R. N., Norling, R., Hove, H., Bundgård, Henning, Hertz, J. M., Kondziella, Daniel, Krieger, D., Dunø, M. & Grønborg, S., 2020, In: Journal of the Neurological Sciences. 415, 116897.

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

ID: 156582356