Kinga Hadzsiev

Ifjusag Road 20
Pecs, BA 7624, Hungary

Last Updated: 09/26/2026

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Found 89 publications

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

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.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

Journal: International journal of molecular sciences

Published: November 06, 2025

Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics.

Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics.

Journal: International journal of molecular sciences

Published: July 04, 2025

Comparative Analysis of the Genetic Composition of Minorities in the Carpathian Basin Through Genome-Wide Autosomal Data.

Comparative Analysis of the Genetic Composition of Minorities in the Carpathian Basin Through Genome-Wide Autosomal Data.

Journal: Genes

Published: April 14, 2025

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 14, 2025

International clinical evidence-based guideline for Kleefstra syndrome.

International clinical evidence-based guideline for Kleefstra syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 14, 2025

Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.

Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.

Journal: Biomedicines

Published: December 19, 2024

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.

Journal: International journal of molecular sciences

Published: October 09, 2024

Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.

Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.

Journal: Pathology oncology research : POR

Published: April 30, 2024

Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.

Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: April 27, 2024

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder.

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder.

Journal: International journal of molecular sciences

Published: April 27, 2024

Showing 1-12 of 89

Last Updated: 09/26/2026