Miroslava Hancarova
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 43 publications
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
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Journal: The Lancet. Neurology
Published: September 04, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: July 26, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: February 03, 2024
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
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Journal: The Journal of clinical investigation
Published: April 06, 2023
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Journal: Molecular genetics & genomic medicine
Published: September 02, 2022
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Journal: American journal of human genetics
Published: December 23, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Journal: Nature communications
Published: October 22, 2020
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 04, 2020
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.
Journal: Parkinsonism & related disorders
Published: April 19, 2020
Last Updated: 09/26/2026