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Page 1
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.
Am J Med Genet A. 2022 May;188(5):1464-1475. doi: 10.1002/ajmg.a.62663. Epub 2022 Jan 25.
Am J Med Genet A. 2022.
PMID: 35080095
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice.
Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E.
Gamage TH, et al. Among authors: amundsen ss.
Cell Calcium. 2018 Dec;76:87-100. doi: 10.1016/j.ceca.2018.10.001. Epub 2018 Oct 5.
Cell Calcium. 2018.
PMID: 30390422
Free PMC article.
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Genetic risk variants for autoimmune diseases that influence gene expression in thymus.
Gabrielsen IS, Amundsen SS, Helgeland H, Flåm ST, Hatinoor N, Holm K, Viken MK, Lie BA.
Gabrielsen IS, et al. Among authors: amundsen ss.
Hum Mol Genet. 2016 Jul 15;25(14):3117-3124. doi: 10.1093/hmg/ddw152. Epub 2016 May 19.
Hum Mol Genet. 2016.
PMID: 27199374
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Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.
Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K.
Bjørgo K, et al. Among authors: amundsen ss.
Mol Genet Metab. 2017 Aug;121(4):325-328. doi: 10.1016/j.ymgme.2017.06.004. Epub 2017 Jun 17.
Mol Genet Metab. 2017.
PMID: 28673549
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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B.
Tjeldhorn L, et al. Among authors: amundsen ss.
BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4.
BMC Med Genet. 2015.
PMID: 26684006
Free PMC article.
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A comprehensive screen for SNP associations on chromosome region 5q31-33 in Swedish/Norwegian celiac disease families.
Amundsen SS, Adamovic S, Hellqvist A, Nilsson S, Gudjónsdóttir AH, Ascher H, Ek J, Larsson K, Wahlström J, Lie BA, Sollid LM, Naluai AT.
Amundsen SS, et al.
Eur J Hum Genet. 2007 Sep;15(9):980-7. doi: 10.1038/sj.ejhg.5201870. Epub 2007 Jun 6.
Eur J Hum Genet. 2007.
PMID: 17551518
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