Renata Gaillyova

Brno, JM, Czech Republic

Last Updated: 09/26/2026

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Found 31 publications

Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.

Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.

Journal: Orphanet journal of rare diseases

Published: April 17, 2025

Genetic and Structural Variations in Czech Patients With Congenital Myopathies.

Genetic and Structural Variations in Czech Patients With Congenital Myopathies.

Journal: Clinical genetics

Published: April 01, 2025

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.

Journal: Scientific reports

Published: June 27, 2024

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Journal: Orphanet journal of rare diseases

Published: June 25, 2023

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.

Journal: Molecular medicine reports

Published: October 05, 2022

Malignant hyperthermia in Czechia and Slovakia.

Malignant hyperthermia in Czechia and Slovakia.

Journal: British journal of anaesthesia

Published: March 01, 2022

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.

Journal: Epilepsy & behavior : E&B

Published: November 08, 2021

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.

Journal: Journal of human genetics

Published: August 06, 2021

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.

Journal: Frontiers in genetics

Published: July 30, 2021

Author Correction: Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Author Correction: Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Journal: Scientific reports

Published: April 30, 2021

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Journal: Scientific reports

Published: September 04, 2020

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.

Journal: Neurogenetics

Published: January 13, 2020

Showing 1-12 of 31

Last Updated: 09/26/2026