Birgitte Rode Diness
Clinical Associate Professor
- 2021
- Published
Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes
Gerdes, Anne-Marie Axø, Nicolaisen, L., Husum, E., Andersen, J. B., Gantzhorn, M. D., Roos, L. & Diness, Birgitte Rode, May 2021, In: European Journal of Human Genetics. 29, 5, p. 851-860 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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
- Published
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
- Published
Det danske screeningsprogram for hæmoglobinopatier
Glenthøj, Andreas Birkedal, Samson, M., Toft, N., Diness, Birgitte Rode, Askj R, N., Vojdeman, F. J., Birgens, H., Sørensen, M. B. & Petersen, J., 18 Jan 2021, In: Ugeskrift for Laeger. 183, 3, 8 p., V07200536.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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
- Published
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families
McKenzie, F., Mina, K., Callewaert, B., Beyens, A., Dickinson, J. E., Jevon, G., Papadimitriou, J., Diness, Birgitte Rode, Steensberg, J. N., Ek, J. & Baynam, G., 2021, In: Clinical Genetics. 100, 2, p. 168-175Research output: Contribution to journal › Journal article › Research › peer-review
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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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