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Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S, Wolff AB, Vigeland MD, Breivik L, Sheng Y, Oftedal BE, Artaza H, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E. Aslaksen S, et al. Among authors: selmer kk. J Transl Autoimmun. 2019 May 28;1:100005. doi: 10.1016/j.jtauto.2019.100005. eCollection 2019 Apr. J Transl Autoimmun. 2019. PMID: 32743495 Free PMC article.
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: selmer kk. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
Genome-wide linkage analysis with clustered SNP markers.
Selmer KK, Brandal K, Olstad OK, Birkenes B, Undlien DE, Egeland T. Selmer KK, et al. J Biomol Screen. 2009 Jan;14(1):92-6. doi: 10.1177/1087057108327327. J Biomol Screen. 2009. PMID: 19171925
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE. Selmer KK, et al. Clin Genet. 2009 Oct;76(4):398-403. doi: 10.1111/j.1399-0004.2009.01208.x. Epub 2009 Aug 10. Clin Genet. 2009. PMID: 19673951
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM. Rydning SL, et al. Among authors: selmer kk. Eur J Neurol. 2016 Apr;23(4):763-71. doi: 10.1111/ene.12937. Epub 2016 Jan 12. Eur J Neurol. 2016. PMID: 26756429
86 results