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CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.
Neuropediatrics. 2016 Dec;47(6):361-367. doi: 10.1055/s-0036-1586730. Epub 2016 Sep 6.
Neuropediatrics. 2016.
PMID: 27599155
Review.
Incidence of Childhood Epilepsy in Estonia.
Veri K, Talvik I, Vaher U, Napa A, Ilves P, Uibo O, Õiglane-Shlik E, Laugesaar R, Rein R, Kolk A, Noormets K, Reimand T, Õunap K, Talvik T.
Veri K, et al. Among authors: noormets k.
J Child Neurol. 2018 Aug;33(9):587-592. doi: 10.1177/0883073818776760. Epub 2018 Jun 4.
J Child Neurol. 2018.
PMID: 29862897
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De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
Pajusalu S, Talvik I, Noormets K, Talvik T, Põder H, Joost K, Puusepp S, Piirsoo A, Stenzel W, Goebel HH, Nikopensius T, Annilo T, Nõukas M, Metspalu A, Õunap K, Reimand T.
Pajusalu S, et al. Among authors: noormets k.
Neuromuscul Disord. 2016 Mar;26(3):236-9. doi: 10.1016/j.nmd.2015.11.011. Epub 2015 Dec 3.
Neuromuscul Disord. 2016.
PMID: 26782017
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Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene.
Noormets K, Kõks S, Muldmaa M, Mauring L, Vasar E, Tillmann V.
Noormets K, et al.
Exp Clin Endocrinol Diabetes. 2011 May;119(5):271-5. doi: 10.1055/s-0030-1265163. Epub 2010 Oct 28.
Exp Clin Endocrinol Diabetes. 2011.
PMID: 21031341
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Male mice with deleted Wolframin (Wfs1) gene have reduced fertility.
Noormets K, Kõks S, Kavak A, Arend A, Aunapuu M, Keldrimaa A, Vasar E, Tillmann V.
Noormets K, et al.
Reprod Biol Endocrinol. 2009 Aug 10;7:82. doi: 10.1186/1477-7827-7-82.
Reprod Biol Endocrinol. 2009.
PMID: 19664290
Free PMC article.
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Wfs1 gene deletion causes growth retardation in mice and interferes with the growth hormone pathway.
Kõks S, Soomets U, Paya-Cano JL, Fernandes C, Luuk H, Plaas M, Terasmaa A, Tillmann V, Noormets K, Vasar E, Schalkwyk LC.
Kõks S, et al. Among authors: noormets k.
Physiol Genomics. 2009 May 13;37(3):249-59. doi: 10.1152/physiolgenomics.90407.2008. Epub 2009 Mar 17.
Physiol Genomics. 2009.
PMID: 19293327
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Energy metabolism and thyroid function of mice with deleted wolframin (Wfs1) gene.
Noormets K, Kõks S, Ivask M, Aunapuu M, Arend A, Vasar E, Tillmann V.
Noormets K, et al.
Exp Clin Endocrinol Diabetes. 2014 May;122(5):281-6. doi: 10.1055/s-0034-1372582. Epub 2014 Apr 7.
Exp Clin Endocrinol Diabetes. 2014.
PMID: 24710642
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Hypothalamic gene expression profile indicates a reduction in G protein signaling in the Wfs1 mutant mice.
Kõks S, Soomets U, Plaas M, Terasmaa A, Noormets K, Tillmann V, Vasar E, Fernandes C, Schalkwyk LC.
Kõks S, et al. Among authors: noormets k.
Physiol Genomics. 2011 Dec 16;43(24):1351-8. doi: 10.1152/physiolgenomics.00117.2011. Epub 2011 Oct 25.
Physiol Genomics. 2011.
PMID: 22028430
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