Kahre T - Search Results

1

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Pajusalu S, Vals MA, Mihkla L, Šamarina U, Kahre T, Õunap K. Pajusalu S, et al. Among authors: kahre t. Front Genet. 2021 Aug 10;12:719437. doi: 10.3389/fgene.2021.719437. eCollection 2021. Front Genet. 2021. PMID: 34447415 Free PMC article.

2

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. Among authors: kahre t. 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

3

Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population.

Puusepp H, Kahre T, Sibul H, Soo V, Lind I, Raukas E, Ounap K. Puusepp H, et al. Among authors: kahre t. J Child Neurol. 2008 Dec;23(12):1400-5. doi: 10.1177/0883073808319071. J Child Neurol. 2008. PMID: 19073844

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: kahre t. 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

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: kahre t. JIMD Rep. 2012;2:79-85. doi: 10.1007/8904_2011_51. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430857 Free PMC article.

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: kahre t. 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

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K. Vals MA, et al. Among authors: kahre t. Genet Test Mol Biomarkers. 2015 Dec;19(12):684-91. doi: 10.1089/gtmb.2015.0163. Epub 2015 Oct 27. Genet Test Mol Biomarkers. 2015. PMID: 26505556 Free PMC article. Clinical Trial.

8

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.

Vals MA, Kahre T, Mee P, Muru K, Kallas E, Žilina O, Tillmann V, Õunap K. Vals MA, et al. Among authors: kahre t. Mol Syndromol. 2015 Sep;6(3):147-51. doi: 10.1159/000437061. Epub 2015 Jul 24. Mol Syndromol. 2015. PMID: 26732610 Free PMC article.

9

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

Pajusalu S, Kahre T, Roomere H, Murumets Ü, Roht L, Simenson K, Reimand T, Õunap K. Pajusalu S, et al. Among authors: kahre t. Clin Genet. 2018 Jan;93(1):78-83. doi: 10.1111/cge.13031. Epub 2017 Aug 21. Clin Genet. 2018. PMID: 28378410

10

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.

Yakoreva M, Kahre T, Pajusalu S, Ilisson P, Žilina O, Tillmann V, Reimand T, Õunap K. Yakoreva M, et al. Among authors: kahre t. Mol Syndromol. 2018 Jul;9(4):182-189. doi: 10.1159/000489446. Epub 2018 May 18. Mol Syndromol. 2018. PMID: 30181735 Free PMC article.

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