Õunap K - Search Results

1

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.

Pajusalu S, Žilina O, Yakoreva M, Tammur P, Kuuse K, Mölter-Väär T, Nõukas M, Reimand T, Õunap K. Pajusalu S, et al. Among authors: ounap k. Mol Syndromol. 2015 Sep;6(3):135-40. doi: 10.1159/000438776. Epub 2015 Aug 15. Mol Syndromol. 2015. PMID: 26733775 Free PMC article.

2

Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia.

Reimand T, Uibo O, Zordania R, Palmiste V, Ounap K, Tqlvik T. Reimand T, et al. Among authors: ounap k. Community Genet. 2003;6(3):166-70. doi: 10.1159/000078164. Community Genet. 2003. PMID: 15243997

3

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

4

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.

Ounap K, Ilus T, Laidre P, Uibo O, Tammur P, Bartsch O. Ounap K, et al. Am J Med Genet A. 2005 Sep 1;137A(3):323-7. doi: 10.1002/ajmg.a.30890. Am J Med Genet A. 2005. PMID: 16094674 Review.

5

Descriptive epidemiology of Down's syndrome in Estonia.

Reimand T, Ounap K, Zordania R, Ilus T, Uibo O, Sitska M, Talvik T. Reimand T, et al. Among authors: ounap k. Paediatr Perinat Epidemiol. 2006 Nov;20(6):512-9. doi: 10.1111/j.1365-3016.2006.00758.x. Paediatr Perinat Epidemiol. 2006. PMID: 17052289

6

5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss.

Puusepp H, Zilina O, Teek R, Männik K, Parkel S, Kruustük K, Kuuse K, Kurg A, Ounap K. Puusepp H, et al. Among authors: ounap k. Eur J Med Genet. 2009 Jan-Feb;52(1):71-4. doi: 10.1016/j.ejmg.2008.09.006. Epub 2008 Oct 17. Eur J Med Genet. 2009. PMID: 18983945

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: 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.

8

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

9

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays.

Oitmaa E, Peters M, Vaidla K, Andreson R, Mägi R, Slavin G, Velthut A, Tõnisson N, Reimand T, Remm M, Schneider M, Ounap K, Salumets A, Metspalu A. Oitmaa E, et al. Among authors: ounap k. Prenat Diagn. 2010 Dec;30(12-13):1170-7. doi: 10.1002/pd.2639. Prenat Diagn. 2010. PMID: 20949644

10

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

Männik K, Parkel S, Palta P, Zilina O, Puusepp H, Esko T, Mägi R, Nõukas M, Veidenberg A, Nelis M, Metspalu A, Remm M, Ounap K, Kurg A. Männik K, et al. Among authors: ounap k. Eur J Med Genet. 2011 Mar-Apr;54(2):136-43. doi: 10.1016/j.ejmg.2010.11.005. Epub 2010 Nov 26. Eur J Med Genet. 2011. PMID: 21112420

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