Õunap K - Search Results

1

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

Muru K, Reinson K, Künnapas K, Lilleväli H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Õunap K. Muru K, et al. Among authors: ounap k. Mol Genet Genomic Med. 2019 Sep;7(9):e915. doi: 10.1002/mgg3.915. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31392824 Free PMC article.

2

The incidence and characterization of phenylketonuric patients in Estonia.

Ounap K, Lilleväli H, Klaassen T, Metspalu A, Sitska M. Ounap K, et al. J Inherit Metab Dis. 1996;19(3):381-2. doi: 10.1007/BF01799278. J Inherit Metab Dis. 1996. PMID: 8803791 No abstract available.

3

Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.

Lilleväli H, Ounap K, Metspalu A. Lilleväli H, et al. Among authors: ounap k. Eur J Hum Genet. 1996;4(5):296-300. doi: 10.1159/000472217. Eur J Hum Genet. 1996. PMID: 8946176

4

Development of the phenylketonuria screening programme in Estonia.

Ounap K, Lilleväli H, Metspalu A, Lipping-Sitska M. Ounap K, et al. J Med Screen. 1998;5(1):22-3. doi: 10.1136/jms.5.1.22. J Med Screen. 1998. PMID: 9575455

5

Mutation 985A>G in the MCAD gene shows low incidence in Estonian population.

Lilleväli H, Margus K, Ounap K, Metspalu A. Lilleväli H, et al. Among authors: ounap k. Hum Mutat. 2000 Mar;15(3):293-4. doi: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU12>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10679947

6

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.

7

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.

8

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.

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: 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.

10

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

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