Riina Zordania

Tartu, Estonia

Last Updated: 09/26/2026

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Found 15 publications

Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF).

Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF).

Journal: European journal of medical genetics

Published: May 19, 2026

Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia.

Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia.

Journal: Frontiers in genetics

Published: February 20, 2026

Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia.

Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia.

Journal: Scientific reports

Published: November 14, 2025

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Journal: Neurology

Published: June 26, 2025

Natural history of KBG syndrome in a large European cohort.

Natural history of KBG syndrome in a large European cohort.

Journal: Human molecular genetics

Published: June 01, 2022

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Journal: Frontiers in genetics

Published: October 17, 2021

A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.

A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.

Journal: FEBS letters

Published: June 25, 2019

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

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

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

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

Journal: American journal of medical genetics. Part A

Published: September 29, 2016

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

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

Journal: Clinical case reports

Published: May 03, 2015

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Journal: American journal of human genetics

Published: November 17, 2014

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.

Journal: Advances in medical sciences

Published: November 14, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026