Anna Zsigmond

Pecs, BA, Hungary

Last Updated: 09/26/2026

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Found 13 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

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

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

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

Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.

Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.

Journal: Pathology oncology research : POR

Published: March 14, 2024

Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor.

Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor.

Journal: Neuropediatrics

Published: June 01, 2023

Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study.

Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study.

Journal: Frontiers in psychology

Published: December 03, 2022

Neurofibromatosis-1 microdeletion syndrome.

Neurofibromatosis-1 microdeletion syndrome.

Journal: Orvosi hetilap

Published: September 23, 2022

TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.

TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.

Journal: European journal of medical genetics

Published: June 02, 2021

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.

Journal: Frontiers in genetics

Published: February 26, 2021

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.

Journal: Frontiers in genetics

Published: November 30, 2020

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Last Updated: 09/26/2026