Lenka Mrazova-Steiner
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 11 publications
Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.
Journal: bioRxiv : the preprint server for biology
Published: September 26, 2025
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
Journal: Nature communications
Published: September 23, 2025
Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.
Journal: Journal of the American Society of Nephrology : JASN
Published: August 27, 2025
Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.
Journal: Journal of the American Society of Nephrology : JASN
Published: August 27, 2025
Differential regulation of gene co-expression modules in muscles and liver of preterm newborns.
Journal: Frontiers in cell and developmental biology
Published: June 14, 2025
Faster postnatal decline in hepatic erythropoiesis than granulopoiesis in human newborns.
Journal: Frontiers in pediatrics
Published: February 07, 2025
Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.
Journal: Journal of the American Society of Nephrology : JASN
Published: May 17, 2024
Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure.
Journal: Cardiovascular diabetology
Published: March 03, 2024
Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.
Journal: Journal of inherited metabolic disease
Published: October 14, 2021
COQ2 polymorphisms are not associated with increased risk of statin-induced myalgia/myopathy in the Czech population.
Journal: Drug metabolism and personalized therapy
Published: September 15, 2017
Showing 1-11 of 11
Last Updated: 09/26/2026