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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 1
2006 2
2012 1
2013 1
2014 4
2016 1
2017 1
2018 4
2019 3
2020 1
2021 1
2024 0

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18 results

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Page 1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: oiglane shlik e. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
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: oiglane shlik e. J Child Neurol. 2018 Aug;33(9):587-592. doi: 10.1177/0883073818776760. Epub 2018 Jun 4. J Child Neurol. 2018. PMID: 29862897
Epilepsy after perinatal stroke with different vascular subtypes.
Laugesaar R, Vaher U, Lõo S, Kolk A, Männamaa M, Talvik I, Õiglane-Shlik E, Loorits D, Talvik T, Ilves P. Laugesaar R, et al. Among authors: oiglane shlik e. Epilepsia Open. 2018 Mar 2;3(2):193-202. doi: 10.1002/epi4.12104. eCollection 2018 Jun. Epilepsia Open. 2018. PMID: 29881798 Free PMC article.
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.
Õunap K, Muru K, Õiglane-Shlik E, Ilves P, Pajusalu S, Kuus I, Wojcik MH, Reimand T. Õunap K, et al. Among authors: oiglane shlik e. Eur J Med Genet. 2020 Feb;63(2):103660. doi: 10.1016/j.ejmg.2019.04.017. Epub 2019 Apr 29. Eur J Med Genet. 2020. PMID: 31048081 Free PMC article.
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.
Yakoreva M, Kahre T, Žordania R, Reinson K, Teek R, Tillmann V, Peet A, Õiglane-Shlik E, Pajusalu S, Murumets Ü, Vals MA, Mee P, Wojcik MH, Õunap K. Yakoreva M, et al. Among authors: oiglane shlik e. Eur J Hum Genet. 2019 Nov;27(11):1649-1658. doi: 10.1038/s41431-019-0446-x. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186545 Free PMC article.
The neonatal phenotype of Prader-Willi syndrome.
Oiglane-Shlik E, Zordania R, Varendi H, Antson A, Mägi ML, Tasa G, Bartsch O, Talvik T, Ounap K. Oiglane-Shlik E, et al. Am J Med Genet A. 2006 Jun 1;140(11):1241-4. doi: 10.1002/ajmg.a.31223. Am J Med Genet A. 2006. PMID: 16642508 No abstract available.
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K. Reinson K, et al. Among authors: oiglane shlik e. Eur J Med Genet. 2019 Nov;62(11):103572. doi: 10.1016/j.ejmg.2018.11.006. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423443
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K. Reinson K, et al. Among authors: oiglane shlik e. Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250579
18 results