Publications by authors named "Rita Teek"

11Publications

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

Mol Genet Genomic Med 2014 Mar 9;2(2):166-75. Epub 2014 Jan 9.

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

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March 2014

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Eur J Paediatr Neurol 2014 May 25;18(3):338-46. Epub 2014 Jan 25.

Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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May 2014

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.

Am J Med Genet A 2014 Mar 20;164A(3):806-9. Epub 2013 Dec 20.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Medical Faculty, University of Tartu, Tartu, Estonia.

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March 2014

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

Evaluation of the 124-plex SNP typing microarray for forensic testing.

Forensic Sci Int Genet 2009 Dec 15;4(1):43-8. Epub 2009 May 15.

Department of Biotechnology, IMCB, University of Tartu, 23 Riia St, 51010 Tartu, Estonia.

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December 2009

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