Lenka Dvorakova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 46 publications

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Journal: Molecular genetics and metabolism reports

Published: October 09, 2025

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Journal: Journal of inherited metabolic disease

Published: September 29, 2025

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: February 25, 2025

Epidemiology, diagnosis and outcomes of acquired demyelinating syndromes in children: A Czech perspective.

Epidemiology, diagnosis and outcomes of acquired demyelinating syndromes in children: A Czech perspective.

Journal: Multiple sclerosis and related disorders

Published: February 17, 2025

Management actions based on vehicle rides support threatened species of multiple taxa in open-habitat biodiversity hotspots - Abandoned military training areas.

Management actions based on vehicle rides support threatened species of multiple taxa in open-habitat biodiversity hotspots - Abandoned military training areas.

Journal: Journal of environmental management

Published: December 05, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

Journal: Breast (Edinburgh, Scotland)

Published: February 21, 2024

Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.

Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.

Journal: Cancer

Published: January 25, 2024

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.

Journal: International journal of molecular sciences

Published: August 19, 2023

Pitfalls of X-chromosome inactivation testing in females with Fabry disease.

Pitfalls of X-chromosome inactivation testing in females with Fabry disease.

Journal: American journal of medical genetics. Part A

Published: November 19, 2021

Showing 1-12 of 46

Last Updated: 09/26/2026