Birgitte Rode Diness
Clinical Associate Professor
21 - 25 out of 25Page size: 10
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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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Prenatal genetic testing by late amniocentesis to guide delivery management in haemophilia carriers
Ingerslev, M. D., Langhoff-Roos, J., Soegaard, K., Funding, Eva & Diness, Birgitte Rode, 2017, In: Haemophilia. 23, 5, p. e466-e468Research output: Contribution to journal › Letter › Research › peer-review
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Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41
Diness, Birgitte Rode, Risom, L., Frandsen, T. L., Hansen, B., Andersen, M. K., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2018, In: Genes Chromosomes and Cancer. 57, 12, p. 670-674 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark
Diness, Birgitte Rode, Overbeck, Gritt, Hjortshøj, T. D., Hammer, T. B., Timshel, S., Sørensen, E. & McAllister, M., Oct 2017, In: Journal of Genetic Counseling. 26, 5, p. 1080–1089 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 156582356
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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