Marketa Vlckova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 52 publications

Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis.

Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis.

Journal: Acta dermatovenerologica Croatica : ADC

Published: July 14, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 13, 2025

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.

Journal: Neurology. Genetics

Published: December 06, 2024

The role of exome data reanalysis in clarifying STXBP3 associated inflammatory bowel disease and hearing loss.

The role of exome data reanalysis in clarifying STXBP3 associated inflammatory bowel disease and hearing loss.

Journal: Gastroenterology report

Published: September 10, 2024

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Journal: The Lancet. Neurology

Published: September 04, 2024

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Journal: Brain : a journal of neurology

Published: December 29, 2023

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology in 2024: phenotypes around the world.

Journal: Nucleic acids research

Published: September 13, 2023

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Journal: Molecular genetics & genomic medicine

Published: August 03, 2023

A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.

A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.

Journal: Epilepsia open

Published: July 04, 2023

Genetic testing in children enrolled in epilepsy surgery program. A real-life study.

Genetic testing in children enrolled in epilepsy surgery program. A real-life study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: April 19, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: December 15, 2022

Showing 1-12 of 52

Last Updated: 09/26/2026