Birgitte Rode Diness
Clinical Associate Professor
21 - 25 out of 25Page size: 10
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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
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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. V08130505Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Novel lox variants in five families with aortic/arterial aneurysm and dissection with variable connective tissue findings
Van Gucht, I., Krebsova, A., Diness, Birgitte Rode, Laga, S., Adlam, D., Kempers, M., Samani, N. J., Webb, T. R., Baranowska, A. A., Van Den Heuvel, L., Perik, M., Luyckx, I., Peeters, N., Votypka, P., Macek, M., Meester, J., Van Laer, L., Verstraeten, A. & Loeys, B. L., 2021, In: International Journal of Molecular Sciences. 22, 13, 7111.Research output: Contribution to journal › Journal article › Research › peer-review
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Genetisk screening af adopterede raske individer
Wriedt, T. R., Gerdes, Anne-Marie Axø, Roos, L. K., Hammer-Hansen, S., Christensen, M. B. & Diness, Birgitte Rode, 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13, 7 p., V11200810.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 156582356
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First reported adult patient with TARP syndrome: A case report
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64
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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
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11
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Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
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