Ounap K - Search Results

1

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

2

Familial Williams-Beuren syndrome.

Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M. Ounap K, et al. Am J Med Genet. 1998 Dec 28;80(5):491-3. doi: 10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9880214

3

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

4

Sudden death of a girl with Prader-Willi syndrome.

Oiglane E, Ounap K, Bartsch O, Rein R, Talvik T. Oiglane E, et al. Among authors: ounap k. Genet Couns. 2002;13(4):459-64. Genet Couns. 2002. PMID: 12558118

5

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

6

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.

7

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

8

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

9

Girl with partial Turner syndrome and absence epilepsy.

Puusepp H, Zordania R, Paal M, Bartsch O, Ounap K. Puusepp H, et al. Among authors: ounap k. Pediatr Neurol. 2008 Apr;38(4):289-92. doi: 10.1016/j.pediatrneurol.2007.11.008. Pediatr Neurol. 2008. PMID: 18358412

10

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.

Joost K, Rodenburg R, Piirsoo A, van den Heuvel B, Zordania R, Ounap K. Joost K, et al. Among authors: ounap k. Pediatr Neurol. 2010 Mar;42(3):227-30. doi: 10.1016/j.pediatrneurol.2009.10.004. Pediatr Neurol. 2010. PMID: 20159436

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