Rita Teek
Tartu, Estonia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations.
Journal: Frontiers in genetics
Published: August 22, 2024
Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
Journal: European journal of medical genetics
Published: February 14, 2023
Natural history of KBG syndrome in a large European cohort.
Journal: Human molecular genetics
Published: June 01, 2022
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.
Journal: European journal of human genetics : EJHG
Published: January 21, 2019
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Journal: American journal of medical genetics. Part A
Published: October 28, 2015
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Journal: Genetic testing and molecular biomarkers
Published: October 28, 2015
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.
Journal: Advances in medical sciences
Published: November 14, 2013
Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.
Journal: Molecular genetics & genomic medicine
Published: September 19, 2013
Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 12, 2013
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.
Journal: American journal of medical genetics. Part A
Published: July 08, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026