Darina Prchalova
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 24 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
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
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
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Journal: American journal of human genetics
Published: July 02, 2019
Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics.
Journal: BMC medical education
Published: June 10, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Journal: American journal of human genetics
Published: May 17, 2019
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
Journal: American journal of medical genetics. Part A
Published: April 23, 2019
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
Journal: Molecular genetics & genomic medicine
Published: March 11, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Journal: American journal of human genetics
Published: January 23, 2019
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 04, 2018
Last Updated: 09/26/2026