Lenka Fajkusova
Brno, JM, Czech Republic
Last Updated: 09/26/2026
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Found 37 publications
A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.
Journal: Molecular genetics & genomic medicine
Published: May 09, 2025
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.
Journal: Clinical genetics
Published: April 01, 2025
Functional characterization of 16 variants found in the LDL receptor gene.
Journal: Journal of lipid research
Published: February 02, 2025
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.
Journal: Journal of neuromuscular diseases
Published: July 26, 2024
Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis.
Journal: Journal of medical genetics
Published: March 26, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Journal: Clinical genetics
Published: May 25, 2023
Malignant hyperthermia in Czechia and Slovakia.
Journal: British journal of anaesthesia
Published: March 01, 2022
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Journal: Human mutation
Published: December 10, 2021
Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.
Journal: Epilepsy & behavior : E&B
Published: November 08, 2021
Next generation sequencing and its application in the diagnostics of neuromuscular diseases.
Journal: Ceskoslovenska patologie
Published: September 23, 2021
Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic.
Journal: Diagnostics (Basel, Switzerland)
Published: May 04, 2021
Last Updated: 09/26/2026