Research output per year
Research output per year
Search results
-
2024
Klinisk anvendelse af polygene risikoscorer
Terkelsen, T., Hansen, T. F., Herlin, M. K., Djursby, M., Nyegaard, M., Pedersen, I. S., Lildballe, D. L., Færgeman, S. L., Sunde, L. & Hauberg, M. E., 2024, In: Ugeskrift for Læger. 186, 4, p. 317-320 4 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
-
2023
Klinisk anvendelse af polygene risikoscorer
Translated title of the contribution :The clinical use of polygenic risk scores Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
Open AccessFile8 Downloads (Pure) -
2021
A novel nonsense variant in MED12 associated with malformations in a female fetus
Faergeman, S. L., Becher, N., Andreasen, L., Christiansen, M., Frost, L. & Vogel, I., Dec 2021, In: Clinical Case Reports. 9, 12, p. e05124 e05124.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access2 Citations (Scopus) -
Hajdu-Cheney Syndrome
Færgeman, S., Gregersen, P. A. & Nishimura, G., 2021, Orphanet. Orpha.net: OrphanetResearch output: Contribution to book/anthology/report/proceeding › Encyclopedia entry › Communication
Open Access -
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1
Faergeman, S. L., Bojesen, A. B., Rasmussen, M., Becher, N., Andreasen, L., Andersen, B. N., Erbs, E., Lildballe, D. L., Nielsen, J. E. K., Zilmer, M., Hammer, T. B., Andersen, M., Brasch-Andersen, C., Fagerberg, C. R., Illum, N. O., Thorup, M. B. & Gregersen, P. A., Sept 2021, In: European Journal of Medical Genetics. 64, 9, 6 p., 104280.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
6 Citations (Scopus) -
2020
A novel neurodegenerative spectrum disorder in patients with MLKL deficiency
Faergeman, S. L., Evans, H., Attfield, K. E., Desel, C., Kuttikkatte, S. B., Sommerlund, M., Jensen, L. T., Frokiaer, J., Friese, M. A., Matthews, P. M., Luchtenborg, C., Brügger, B., Oturai, A. B., Dendrou, C. A. & Fugger, L., May 2020, In: Cell Death and Disease. 11, 303.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access19 Citations (Scopus)