Birgitte Rode Diness
Clinical Associate Professor
- Published
First reported adult patient with TARP syndrome: A case report
Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, Birgitte Rode, Petersen, M. B. & Nielsen, I. K., 2018, In: American Journal of Medical Genetics. Part A. 176, 12, p. 2915-2918 4 p.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
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Genetisk screening af kommende forældre
Smed, V. M., Petersen, Olav Bennike Bjørn, Gerdes, Anne-Marie Axø, Diness, Birgitte Rode & Roos, L. S., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13, 9 p., V12200933.Research output: Contribution to journal › Journal article › Research › peer-review
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Genomet i kardiologien
Bundgård, Henning, Diness, Birgitte Rode, Tfelt-Hansen, Jacob, Henriksen, F. L., Eschen, O., Skovby, F., Havndrup, O., Jensen, H. K. & Tybjærg-Hansen, Anne, 2014, In: Ugeskrift for Laeger. 176, 46, 5 p., V06140376.Research 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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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
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Højdosis vitamin-A-tilskud sænker børnedødeligheden i lavindkomstlande - kan det blive bedre?
Benn, C. S., Diness, Birgitte Rode, Fisker, A. B., Christoffersen, D. & Friis, Henrik, 2006, In: Ugeskrift for læger. 168 (25), p. 2442-5Research output: Contribution to journal › Journal article › Research › peer-review
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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark
Lildballe, D. L., Frederiksen, A. L., Schönewolf-Greulich, B., Brasch-Andersen, C., Lautrup, C. K., Karstensen, H. G., Pedersen, I. S., Sunde, Lone, Risom, L., Rasmussen, M., Bertelsen, M., Andersen, M. K., Rendtorff, N. D., Gregersen, P. A., Tørring, P. M., Hammer-Hansen, S., Boonen, S. E., Lindquist, Suzanne Granhøj, Hammer, T. B. & Diness, Birgitte Rode, 2023, In: European Journal of Medical Genetics. 66, 12, 5 p., 104872.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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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
ID: 156582356
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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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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
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Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
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