Birgitte Rode Diness
Clinical Associate Professor
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- 2024
- 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
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108
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First reported adult patient with TARP syndrome: A case report
Research output: Contribution to journal › Journal article › Research › peer-review
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64
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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
Research output: Contribution to journal › Journal article › Research › peer-review
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11
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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