Zordania R - Search Results

1

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.

Joost K, Rodenburg R, Piirsoo A, van den Heuvel B, Zordania R, Ounap K. Joost K, et al. Among authors: zordania r. Pediatr Neurol. 2010 Mar;42(3):227-30. doi: 10.1016/j.pediatrneurol.2009.10.004. Pediatr Neurol. 2010. PMID: 20159436

2

A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.

Joost K, Rodenburg RJ, Piirsoo A, van den Heuvel L, Zordania R, Põder H, Talvik I, Kilk K, Soomets U, Ounap K. Joost K, et al. Among authors: zordania r. Mol Syndromol. 2012 Sep;3(3):113-119. doi: 10.1159/000341375. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23112753 Free PMC article.

3

Girl with partial Turner syndrome and absence epilepsy.

Puusepp H, Zordania R, Paal M, Bartsch O, Ounap K. Puusepp H, et al. Among authors: zordania r. Pediatr Neurol. 2008 Apr;38(4):289-92. doi: 10.1016/j.pediatrneurol.2007.11.008. Pediatr Neurol. 2008. PMID: 18358412

4

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

Teek R, Oitmaa E, Kruustük K, Zordania R, Joost K, Raukas E, Tõnisson N, Gardner P, Schrijver I, Kull M, Ounap K. Teek R, et al. Among authors: zordania r. Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):103-7. doi: 10.1016/j.ijporl.2008.10.003. Epub 2008 Nov 22. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19027966

5

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: zordania r. 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

6

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

Krabbi K, Uudelepp ML, Joost K, Zordania R, Õunap K. Krabbi K, et al. Among authors: zordania r. Mol Genet Metab. 2011 Jul;103(3):249-53. doi: 10.1016/j.ymgme.2011.03.023. Epub 2011 Apr 2. Mol Genet Metab. 2011. PMID: 21501963

7

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: zordania r. 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.

8

The live-birth prevalence of mucopolysaccharidoses in Estonia.

Krabbi K, Joost K, Zordania R, Talvik I, Rein R, Huijmans JG, Verheijen FV, Õunap K. Krabbi K, et al. Among authors: zordania r. Genet Test Mol Biomarkers. 2012 Aug;16(8):846-9. doi: 10.1089/gtmb.2011.0307. Epub 2012 Apr 5. Genet Test Mol Biomarkers. 2012. PMID: 22480138 Free PMC article.

9

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

Joost K, Ounap K, Zordania R, Uudelepp ML, Olsen RK, Kall K, Kilk K, Soomets U, Kahre T. Joost K, et al. Among authors: zordania r. JIMD Rep. 2012;2:79-85. doi: 10.1007/8904_2011_51. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430857 Free PMC article.

10

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. Wortmann SB, et al. Among authors: zordania r. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597510 Free PMC article.

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