Õunap K - Search Results

1

Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.

Oja KT, Ilisson M, Reinson K, Muru K, Reimand T, Peterson H, Fishman D, Esko T, Haller T, Kronberg J, Wojcik MH, Kennedy A, Michelotti G, O'Donnell-Luria A, Õiglane-Šlik E, Pajusalu S, Õunap K. Oja KT, et al. Among authors: ounap k. medRxiv [Preprint]. 2023 Mar 30:2023.03.29.23287640. doi: 10.1101/2023.03.29.23287640. medRxiv. 2023. PMID: 37034709 Free PMC article. Preprint.

2

Two sisters with Silver-Russell phenotype.

Ounap K, Reimand T, Mägi ML, Bartsch O. Ounap K, et al. Am J Med Genet A. 2004 Dec 15;131(3):301-6. doi: 10.1002/ajmg.a.30379. Am J Med Genet A. 2004. PMID: 15523618

3

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

Kalev I, Muru K, Teek R, Zordania R, Reimand T, Köbas K, Ounap K. Kalev I, et al. Among authors: ounap k. Eur J Pediatr. 2010 Apr;169(4):469-73. doi: 10.1007/s00431-009-1058-1. Epub 2009 Sep 20. Eur J Pediatr. 2010. PMID: 19768645 Review.

4

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

Teek R, Kruustük K, Zordania R, Joost K, Reimand T, Möls T, Oitmaa E, Kahre T, Tõnisson N, Ounap K. Teek R, et al. Among authors: ounap k. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1007-12. doi: 10.1016/j.ijporl.2010.05.026. Epub 2010 Jun 18. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20708129

5

A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.

Muru K, Kalev I, Teek R, Sõnajalg M, Kuuse K, Reimand T, Ounap K. Muru K, et al. Among authors: ounap k. Mol Syndromol. 2011 Sep;1(6):307-310. doi: 10.1159/000330109. Epub 2011 Aug 3. Mol Syndromol. 2011. PMID: 22190901 Free PMC article.

6

Prospective experience with contingent screening strategy for Down syndrome in Estonia.

Muru K, Sitska M, Asser K, Ehrenberg A, Karro H, Ounap K, Reimand T. Muru K, et al. Among authors: ounap k. J Community Genet. 2010 Sep;1(3):133-8. doi: 10.1007/s12687-010-0020-2. Epub 2010 Oct 2. J Community Genet. 2010. PMID: 22460245 Free PMC article.

7

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

Žilina O, Reimand T, Tammur P, Tillmann V, Kurg A, Õunap K. Žilina O, et al. Among authors: ounap k. Eur J Med Genet. 2013 Apr;56(4):202-6. doi: 10.1016/j.ejmg.2013.01.008. Epub 2013 Jan 28. Eur J Med Genet. 2013. PMID: 23369838 Review.

8

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. Vaher U, et al. Among authors: ounap k. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. J Child Neurol. 2014. PMID: 24352161

9

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. Among authors: ounap k. 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

10

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

Zilina O, Teek R, Tammur P, Kuuse K, Yakoreva M, Vaidla E, Mölter-Väär T, Reimand T, Kurg A, Ounap K. Zilina O, et al. Among authors: ounap k. Mol Genet Genomic Med. 2014 Mar;2(2):166-75. doi: 10.1002/mgg3.57. Epub 2014 Jan 9. Mol Genet Genomic Med. 2014. PMID: 24689080 Free PMC article.

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