Publications by authors named "Riina Zordania"

17Publications

Three families with mild PMM2-CDG and normal cognitive development.

Am J Med Genet A 2017 Jun 19;173(6):1620-1624. Epub 2017 Apr 19.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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June 2017

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Clin Case Rep 2016 08 22;4(8):824-30. Epub 2016 Jul 22.

Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia.

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August 2016

Prenatal diagnosis of 17p13.1p13.3 duplication.

Case Rep Med 2012 17;2012:840538. Epub 2012 Oct 17.

Department of Genetics, United Medix Laboratories Ltd., 00380 Helsinki, Finland ; Department of Clinical Genetics, Helsinki University Central Hospital, 00290 Helsinki, Finland.

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November 2012

The live-birth prevalence of mucopolysaccharidoses in Estonia.

Genet Test Mol Biomarkers 2012 Aug 5;16(8):846-9. Epub 2012 Apr 5.

Institute of Chemistry, Faculty of Sciences, Tallinn University of Technology, Tallinn, Estonia.

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August 2012

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

Int J Pediatr Otorhinolaryngol 2010 Sep 18;74(9):1007-12. Epub 2010 Jun 18.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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September 2010

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

Eur J Pediatr 2010 Apr 20;169(4):469-73. Epub 2009 Sep 20.

Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia.

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April 2010

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

Int J Pediatr Otorhinolaryngol 2009 Jan 22;73(1):103-7. Epub 2008 Nov 22.

Department of Oto-Rhino-Laryngology, University of Tartu, Tartu, Estonia.

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January 2009

Girl with partial Turner syndrome and absence epilepsy.

Pediatr Neurol 2008 Apr;38(4):289-92

Department of Pediatrics, University of Tartu, Tartu, Estonia.

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April 2008

Descriptive epidemiology of Down's syndrome in Estonia.

Paediatr Perinat Epidemiol 2006 Nov;20(6):512-9

Department of Paediatrics, University of Tartu, Tartu, Estonia.

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November 2006