Birgitte Rode Diness
Clinical Associate Professor
1 - 2 out of 2Page size: 500
- 2024
- E-pub ahead of print
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort
Hammer-Hansen, S., Stoltze, U., Bartels, Emil Daniel, Hansen, Thomas van Overeem, Byrjalsen, A., Tybjærg-Hansen, Anne, Juul, K., Schmiegelow, Kjeld, Tfelt-Hansen, Jacob, Bundgård, Henning, Wadt, Karin Anna Wallentin & Diness, Birgitte Rode, 2024, (E-pub ahead of print) In: European Journal of Human Genetics. 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK
Boelman, M. B., Hansen, Thomas van Overeem, Smith, M. N., Hammer-Hansen, S., Christensen, Alex Hørby & Diness, Birgitte Rode, 2024, In: American Journal of Medical Genetics, Part A. 194, 3, 6 p., e63458.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 156582356
Most downloads
-
108
downloads
First reported adult patient with TARP syndrome: A case report
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
64
downloads
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
11
downloads
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
Research output: Contribution to journal › Journal article › Research › peer-review
Published