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Page 1
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, Bolund ACS, 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 Aug;26(8):101170. doi: 10.1016/j.gim.2024.101170. Epub 2024 May 27. 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
20 results