Birgitte Rode Diness

2018

A complex phenotype in a family with a pathogenic SOX3 missense variant

Jelsig, A. M., Diness, B. R., Kreiborg, S., Main, K., Larsen, V. A. & Hove, H., Mar 2018, In: European Journal of Medical Genetics. 61, 3, p. 168-172

Research output: Contribution to journal › Journal article › Research › peer-review

7 Citations (Scopus)

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G., Meester, J., & 22 othersMaystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, B., Risom, L., Scurr, I., Hilhorst-Hofstee, Y., Morisaki, T., Richer, J., Désir, J., Kempers, M., Rideout, A. L., Horne, G., Bennett, C., Rahikkala, E., Vandeweyer, G., Alaerts, M., Verstraeten, A., Dietz, H., Van Laer, L. & Loeys, B., 2018, In: Human Mutation. 39, 5, p. 621-634 14 p.

Research output: Contribution to journal › Journal article › Research › peer-review

49 Citations (Scopus)

28 Downloads (Pure)

First reported adult patient with TARP syndrome: A case report

Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, B. R., Petersen, M. B. & Nielsen, I. K., Dec 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

6 Citations (Scopus)

35 Downloads (Pure)

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

Diness, B. R., Risom, L., Frandsen, T. L., Hansen, B., Andersen, M. K., Schmiegelow, K. & Wadt, K. A. W., 2018, In: Genes Chromosomes and Cancer. 57, 12, p. 670-674 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

7 Citations (Scopus)

2017

Prenatal genetic testing by late amniocentesis to guide delivery management in haemophilia carriers

Ingerslev, M. D., Langhoff-Roos, J., Soegaard, K., Funding, E. & Diness, B. R., Sept 2017, In: Haemophilia. 23, 5, p. e466-e468

Research output: Contribution to journal › Letter › peer-review

2 Citations (Scopus)

Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-₂₄) for Use in Denmark

Diness, B. R., Overbeck, G., Hjortshøj, T. D., Hammer, T. B., Timshel, S., Sørensen, E. & McAllister, M., 1 Oct 2017, In: Journal of Genetic Counseling. 26, 5, p. 1080–1089 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

10 Citations (Scopus)

2014

Genomet i kardiologien

Bundgaard, H., Diness, B. R., Tfelt-Hansen, J., Henriksen, F. L., Eschen, O., Skovby, F., Havndrup, O., Jensen, H. K. & Tybjærg-Hansen, A., 2014, In: Ugeskrift for Laeger. 176, 46, 5 p., V06140376.

Research output: Contribution to journal › Journal article › Research › peer-review

2009

Pre-pregnancy transabdominal cerclage

Thuesen, L. L., Diness, B. R. & 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

13 Citations (Scopus)

2006

Højdosis vitamin-A-tilskud sænker børnedødeligheden i lavindkomstlande - kan det blive bedre?

Benn, C. S., Diness, B. R., Fisker, A. B., Christoffersen, D. & Friis, H., 2006, In: Ugeskrift for læger. 168 (25), p. 2442-5

Research output: Contribution to journal › Journal article › Research › peer-review

Birgitte Rode Diness

Research output

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