Birgitte Rode Diness
Clinical Associate Professor
1 - 3 out of 3Page size: 10
- 2022
- Published
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures
Sølyst, S., Oksjoki, R., Farholt, S., Nielsen, D. G., Christensen, Alex Hørby, Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, Birgitte Rode, 2022, In: Clinical Genetics. 102, 3, p. 191-200Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
Schönewolf-Greulich, B., Karstensen, H. G., Hjortshøj, T. D., Jørgensen, Finn Stener, Harder, K. M., Frevert, S., Hove, H. & Diness, Birgitte Rode, 2022, In: European Journal of Medical Genetics. 65, 10, 104590.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Hjertesygdomme
Frederiksen, A. L. & Diness, Birgitte Rode, 2022, Medicinsk genetik. FADL's Forlag, p. 262-274Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education
ID: 156582356
Most downloads
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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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63
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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
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