Judit Karteszi

1. Zrinyi Street
Zalaegerszeg, ZA 8900, Hungary

Last Updated: 09/26/2026

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Found 9 publications

Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience.

Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience.

Journal: International journal of molecular sciences

Published: September 01, 2025

Timely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer.

Timely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer.

Journal: Pathology oncology research : POR

Published: January 17, 2025

Duplication of the X-chromosomal Xq28 region containing the MECP2 gene in X-linked intellectual disability syndrome Lubs-type

Duplication of the X-chromosomal Xq28 region containing the MECP2 gene in X-linked intellectual disability syndrome Lubs-type

Journal: Orvosi hetilap

Published: November 25, 2024

Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.

Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: October 21, 2024

Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.

Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.

Journal: American journal of medical genetics. Part A

Published: February 07, 2023

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Journal: American journal of medical genetics. Part A

Published: May 05, 2022

Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.

Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.

Journal: Frontiers in immunology

Published: April 13, 2022

Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene.

Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene.

Journal: Frontiers in pediatrics

Published: February 05, 2021

The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.

The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.

Journal: Molecular biology reports

Published: March 14, 2019

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Last Updated: 09/26/2026