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Dive into the research topics where Gitte Hoffmann Bruun is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR
Farooq, M., Bruun, G. H., Sarusie, M. V. K., Kessel, L., Akhtar, H., Abdullah, U., Ali, Z., Shah, S. A., Ali, N., Anjum, I., Doktor, T. K., Andresen, B. S., Baig, S. M., Larsen, L. A. & Grønskov, K., 11. Mar 2026, (E-pub ahead of print) In: European Journal of Human Genetics.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
Allele specific splice switching oligonucleotides targeting pseudoexons
Andresen, B. S. (Inventor), Doktor, T. K. (Inventor), Holm, L. L. (Inventor), Petersen, U. S. S. (Inventor) & Bruun, G. H. (Inventor), 3. Aug 2023, IPC No. A61K31/7088, C12N15/11, C12N15/113, Patent No. WO2023144263 (A3), Priority date 26. Jan 2022, Priority No. DK2022PA70346Research output: Patent
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Splice switching oligonucleotides pseudoexons
Andresen, B. (Inventor), Doktor, T. (Inventor), Holm, L. (Inventor), Petersen, U. S. S. (Inventor) & Bruun, G. (Inventor), 10. Aug 2023, IPC No. A61K31/7088, C12N15/11, C12N15/113, Patent No. AU2022213196 (A1), Priority date 26. Jan 2021, Priority No. WO2022EP51790Research output: Patent
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Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing
Varzari, A., Deyneko, I. V., Bruun, G. H., Dembic, M., Hofmann, W., Cebotari, V. M., Ginda, S. S., Andresen, B. S. & Illig, T., 20. Oct 2022, In: Frontiers in Genetics. 13, 969895.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile88 Downloads (Pure) -
DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning
Grønning, A. G. B., Doktor, T. K., Larsen, S. J., Petersen, U. S. S., Holm, L. L., Bruun, G. H., Hansen, M. B., Hartung, A.-M., Baumbach, J. & Andresen, B. S., 27. Jul 2020, In: Nucleic Acids Research. 48, 13, p. 7099-7118Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile261 Downloads (Pure)