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ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
Dohrn N, Le VQ, Petersen A, Skovbo P, Pedersen IS, Ernst A, Krarup H, Petersen MB. Dohrn N, et al. Among authors: krarup h. Am J Med Genet A. 2015 Apr;167A(4):731-43. doi: 10.1002/ajmg.a.37018. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708584
[When genomic medicine becomes personal].
Nielsen IK, Krarup HB, Pedersen IS. Nielsen IK, et al. Ugeskr Laeger. 2019 Apr 1;181(7A):V11180780. Ugeskr Laeger. 2019. PMID: 30950377 Free article. Danish.
Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.
Okkels H, Sunde L, Lindorff-Larsen K, Thorlacius-Ussing O, Gandrup P, Lindebjerg J, Stubbeteglbjaerg P, Oestergaard JR, Nielsen FC, Krarup HB. Okkels H, et al. Among authors: krarup hb. Int J Colorectal Dis. 2006 Dec;21(8):847-50. doi: 10.1007/s00384-006-0086-9. Epub 2006 Mar 9. Int J Colorectal Dis. 2006. PMID: 16525781
MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.
Okkels H, Lindorff-Larsen K, Thorlasius-Ussing O, Vyberg M, Lindebjerg J, Sunde L, Bernstein I, Klarskov L, Holck S, Krarup HB. Okkels H, et al. Among authors: krarup hb. Appl Immunohistochem Mol Morphol. 2012 Oct;20(5):470-7. doi: 10.1097/PAI.0b013e318249739b. Appl Immunohistochem Mol Morphol. 2012. PMID: 22495361
220 results