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Natural history of adults with KBG syndrome: a physician-reported experience.
Bayat A, Grimes H, de Boer E, Herlin MK, Dahl RS, Lund ICB, Bayat M, Skjelmose Bolund AC, Gjerulfsen CE, Gregersen PA, Zilmer M, Juhl S, Cebula K, Rahikkala E, Maystadt I, Peron A, Vignoli A, Alfano RM, Stanzial F, Benedicenti F, Currò A, Luk HM, Jouret G, Zurita E, Heuft L, Schnabel F, Busche A, Veenstra-Knol HE, Tkemaladze T, Vrielynck P, Lederer D, Platzer K, Ockeloen CW, Goel H, Low KJ. Bayat A, et al. Among authors: herlin mk. Genet Med. 2024 May 27:101170. doi: 10.1016/j.gim.2024.101170. Online ahead of print. Genet Med. 2024. PMID: 38818797
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Among authors: herlin mk. Eur J Med Genet. 2024 Jun;69:104937. doi: 10.1016/j.ejmg.2024.104937. Epub 2024 Apr 2. Eur J Med Genet. 2024. PMID: 38574886 Free article.
The clinical use of polygenic risk scores.
Terkelsen T, Hansen TF, Herlin MK, Djursby M, Nyegaard M, Pedersen IS, Lildballe DL, Færgeman SL, Sunde L, Hauberg ME. Terkelsen T, et al. Among authors: herlin mk. Ugeskr Laeger. 2023 Sep 25;185(39):V04230258. Ugeskr Laeger. 2023. PMID: 37873989 Free article. Review. Danish.
Congenital mirror movements are associated with defective polymerisation of RAD51.
Trouillard O, Dupaigne P, Dunoyer M, Doulazmi M, Herlin MK, Frismand S, Riou A, Legros V, Chevreux G, Veaute X, Busso D, Fouquet C, Saint-Martin C, Méneret A, Trembleau A, Dusart I, Dubacq C, Roze E. Trouillard O, et al. Among authors: herlin mk. J Med Genet. 2023 Nov;60(11):1116-1126. doi: 10.1136/jmg-2023-109189. Epub 2023 Jun 12. J Med Genet. 2023. PMID: 37308287
Compromised PAR1 Activation-A Cause for Bleeding in XMEN?
Nielsen C, Nilsson C, Assing K, Herlin MK, Skakkebæk A, Larsen M, Rathe M, Beck HC, Vinholt PJ. Nielsen C, et al. Among authors: herlin mk. Thromb Haemost. 2023 Jun;123(6):641-644. doi: 10.1055/a-2023-0113. Epub 2023 Jan 31. Thromb Haemost. 2023. PMID: 36720253 No abstract available.
Proteogenomic analysis of acute myeloid leukemia associates relapsed disease with reprogrammed energy metabolism both in adults and children.
Stratmann S, Vesterlund M, Umer HM, Eshtad S, Skaftason A, Herlin MK, Sundström C, Eriksson A, Höglund M, Palle J, Abrahamsson J, Jahnukainen K, Munthe-Kaas MC, Zeller B, Tamm KP, Lindskog C, Cavelier L, Lehtiö J, Holmfeldt L. Stratmann S, et al. Among authors: herlin mk. Leukemia. 2023 Mar;37(3):550-559. doi: 10.1038/s41375-022-01796-7. Epub 2022 Dec 26. Leukemia. 2023. PMID: 36572751 Free PMC article.
49 results