Renata Szalai
Pecs, BA, Hungary
Last Updated: 09/26/2026
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Found 22 publications
From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.
Journal: Human genetics
Published: February 11, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.
NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.
Journal: International journal of molecular sciences
Published: April 26, 2024
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly.
Journal: Molecular genetics and metabolism reports
Published: August 17, 2023
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
Journal: Molecular genetics & genomic medicine
Published: August 03, 2022
Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.
Journal: Molecular syndromology
Published: February 18, 2022
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.
Journal: Frontiers in genetics
Published: February 26, 2021
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Journal: Experimental and molecular pathology
Published: January 27, 2020
A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy
Journal: Orvosi hetilap
Published: May 21, 2019
Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations.
Journal: Pathology oncology research : POR
Published: March 29, 2017
Cytochrome P450 Drug Metabolizing Enzymes in Roma Population Samples: Systematic Review of the Literature.
Journal: Current medicinal chemistry
Published: May 05, 2016
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.
Journal: Molecular cytogenetics
Published: September 21, 2015
Last Updated: 09/26/2026