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List of works by Rita Teek

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

scientific article published on 17 October 2008

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

scientific article

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

scientific article published on 2 June 2016

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

scientific article published on 09 January 2014

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

scientific article

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

scientific article published on 20 September 2009

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

scientific article published on 25 January 2014

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

scientific article published on 18 June 2010

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

scientific article published on 22 November 2008

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome

scientific article

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