Õiglane-Shlik E - Search Results

1

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.

2

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

3

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

4

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Õiglane-Shlik E, Puusepp S, Talvik I, Vaher U, Rein R, Tammur P, Reimand T, Teek R, Žilina O, Tomberg T, Õunap K. Õiglane-Shlik E, et al. Eur J Paediatr Neurol. 2014 May;18(3):338-46. doi: 10.1016/j.ejpn.2014.01.008. Epub 2014 Jan 25. Eur J Paediatr Neurol. 2014. PMID: 24529875

5

A female with Angelman syndrome and unusual limb deformities.

Oiglane-Shlik E, Rein R, Tillmann V, Talvik T, Ounap K. Oiglane-Shlik E, et al. Pediatr Neurol. 2005 Jul;33(1):66-9. doi: 10.1016/j.pediatrneurol.2005.02.004. Pediatr Neurol. 2005. PMID: 15876517

6

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K. Zilina O, et al. Among authors: oiglane shlik e. Eur J Med Genet. 2014 May-Jun;57(6):279-83. doi: 10.1016/j.ejmg.2014.03.007. Epub 2014 Apr 2. Eur J Med Genet. 2014. PMID: 24704109

7

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Puusepp S, Reinson K, Pajusalu S, Murumets Ü, Õiglane-Shlik E, Rein R, Talvik I, Rodenburg RJ, Õunap K. Puusepp S, et al. Among authors: oiglane shlik e. Mol Genet Metab Rep. 2018 Mar 15;15:80-89. doi: 10.1016/j.ymgmr.2018.03.004. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30009132 Free PMC article.

8

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.

9

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Sarv S, Kahre T, Vaidla E, Pajusalu S, Muru K, Põder H, Gross-Paju K, Ütt S, Žordania R, Talvik I, Õiglane-Shlik E, Muhu K, Õunap K. Sarv S, et al. Among authors: oiglane shlik e. Front Genet. 2021 Dec 22;12:796862. doi: 10.3389/fgene.2021.796862. eCollection 2021. Front Genet. 2021. PMID: 35003227 Free PMC article.

10

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.

Oiglane-Shlik E, Talvik T, Zordania R, Põder H, Kahre T, Raukas E, Ilus T, Tasa G, Bartsch O, Väisänen ML, Ounap K. Oiglane-Shlik E, et al. Am J Med Genet A. 2006 Sep 15;140(18):1936-43. doi: 10.1002/ajmg.a.31423. Am J Med Genet A. 2006. PMID: 16906556

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