Õunap K - Search Results

1

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K. Reinson K, et al. Among authors: ounap k. Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250579

2

Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter.

Talvik I, Ounap K, Bartsch O, Ilus T, Uibo O, Talvik T. Talvik I, et al. Among authors: ounap k. Am J Med Genet. 2000 Aug 28;93(5):399-402. Am J Med Genet. 2000. PMID: 10951464

3

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

4

Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development.

Ounap K, Uibo O, Zordania R, Kiho L, Ilus T, Oiglane-Shlik E, Bartsch O. Ounap K, et al. Am J Med Genet A. 2004 Nov 1;130A(4):415-23. doi: 10.1002/ajmg.a.30269. Am J Med Genet A. 2004. PMID: 15481033

5

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

6

A female with Angelman syndrome and unusual limb deformities.

Oiglane-Shlik E, Rein R, Tillmann V, Talvik T, Ounap K. Oiglane-Shlik E, et al. Among authors: ounap k. Pediatr Neurol. 2005 Jul;33(1):66-9. doi: 10.1016/j.pediatrneurol.2005.02.004. Pediatr Neurol. 2005. PMID: 15876517

7

The neonatal phenotype of Prader-Willi syndrome.

Oiglane-Shlik E, Zordania R, Varendi H, Antson A, Mägi ML, Tasa G, Bartsch O, Talvik T, Ounap K. Oiglane-Shlik E, et al. Among authors: ounap k. Am J Med Genet A. 2006 Jun 1;140(11):1241-4. doi: 10.1002/ajmg.a.31223. Am J Med Genet A. 2006. PMID: 16642508 No abstract available.

8

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

9

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

10

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

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