Ulle Murumets

2 L. Puusepa Street
Tartu, 51014, Estonia

Last Updated: 09/26/2026

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Found 17 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

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

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

SPIN4-related X-linked overgrowth in a family.

SPIN4-related X-linked overgrowth in a family.

Journal: European journal of medical genetics

Published: September 10, 2025

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

Journal: Annals of neurology

Published: April 01, 2025

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

Journal: HemaSphere

Published: July 11, 2024

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

Journal: Cancers

Published: June 13, 2023

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.

Journal: Frontiers in genetics

Published: August 16, 2022

Pharmacogenetics may explain part of the interindividual variability of dobutamine pharmacodynamics in neonates.

Pharmacogenetics may explain part of the interindividual variability of dobutamine pharmacodynamics in neonates.

Journal: British journal of clinical pharmacology

Published: November 29, 2021

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.

Journal: BMC pregnancy and childbirth

Published: November 09, 2021

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.

Journal: Molecular genetics & genomic medicine

Published: June 07, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026