Katerina Slaba
Brno, JM, Czech Republic
Last Updated: 09/26/2026
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Found 20 publications
Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants.
Journal: BMC medical genomics
Published: February 08, 2026
Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant.
Journal: Clinical case reports
Published: September 02, 2025
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
A tagging polymorphism in fat mass and obesity-associated (FTO) gene is associated with sepsis status in children.
Journal: Romanian journal of internal medicine = Revue roumaine de medecine interne
Published: March 12, 2024
Multivariate linear mixture models for the prediction of febrile seizure risk and recurrence: a prospective case-control study.
Journal: Scientific reports
Published: February 20, 2023
COVID-19-Associated Paediatric Inflammatory Multisystem Syndrome (PIMS-TS) in Intensive Care: A Retrospective Cohort Trial (PIMS-TS INT).
Journal: Children (Basel, Switzerland)
Published: January 11, 2023
Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Journal: Molecular genetics & genomic medicine
Published: October 12, 2022
Nationwide observational study of paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the Czech Republic.
Journal: European journal of pediatrics
Published: February 02, 2022
Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.
Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Published: January 23, 2021
Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report.
Journal: Genes
Published: December 06, 2020
Last Updated: 09/26/2026