Õunap K - 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: ounap k. 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: ounap k. 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: ounap k. 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: 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

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: ounap k. 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

Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

Vals MA, Õiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Õunap K. Vals MA, et al. Among authors: ounap k. Eur J Hum Genet. 2014 Nov;22(11):1327-9. doi: 10.1038/ejhg.2014.25. Epub 2014 Feb 26. Eur J Hum Genet. 2014. PMID: 24569609 Free PMC article.

7

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: ounap k. 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

8

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.

Pajusalu S, Reimand T, Õunap K. Pajusalu S, et al. Among authors: ounap k. Am J Med Genet A. 2015 Aug;167A(8):1913-5. doi: 10.1002/ajmg.a.37105. Epub 2015 Apr 5. Am J Med Genet A. 2015. PMID: 25847626

9

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

Pajusalu S, Reimand T, Uibo O, Vasar M, Talvik I, Zilina O, Tammur P, Õunap K. Pajusalu S, et al. Among authors: ounap k. Eur J Med Genet. 2015 Jun-Jul;58(6-7):336-40. doi: 10.1016/j.ejmg.2015.04.002. Epub 2015 Apr 20. Eur J Med Genet. 2015. PMID: 25907420

10

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: ounap k. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

202 results

Search Page

Filters