Margit Pal

Szeged, CS, Hungary

Last Updated: 09/26/2026

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Found 24 publications

Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral sclerosis in Hungary.

Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral sclerosis in Hungary.

Journal: Molecular medicine (Cambridge, Mass.)

Published: January 25, 2026

A Unique Patient Stratification Method Combined with a Machine Learning Approach Identifies Novel Genetic Susceptibility and Protective Factors for Severe COVID-19 in a Hungarian Population.

A Unique Patient Stratification Method Combined with a Machine Learning Approach Identifies Novel Genetic Susceptibility and Protective Factors for Severe COVID-19 in a Hungarian Population.

Journal: International journal of molecular sciences

Published: January 10, 2026

A Novel Germline Frameshift Variant in the Tumor Suppressor Gene OBSCN in a Melanoma Patient.

A Novel Germline Frameshift Variant in the Tumor Suppressor Gene OBSCN in a Melanoma Patient.

Journal: International journal of molecular sciences

Published: September 15, 2025

Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss.

Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss.

Journal: International journal of molecular sciences

Published: January 10, 2025

Novel FANCI and RAD54B Variants and the Observed Clinical Outcomes in a Hungarian Melanoma Cohort.

Novel FANCI and RAD54B Variants and the Observed Clinical Outcomes in a Hungarian Melanoma Cohort.

Journal: International journal of molecular sciences

Published: December 02, 2024

Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype.

Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype.

Journal: Journal of dermatological science

Published: November 13, 2024

Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk.

Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk.

Journal: Pigment cell & melanoma research

Published: July 03, 2024

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

Journal: International journal of molecular sciences

Published: November 10, 2023

Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.

Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.

Journal: BMC medical genomics

Published: October 02, 2023

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.

Journal: BMC pediatrics

Published: July 28, 2023

Truncating CYLD Pathogenic Variants in CYLD Cutaneous Syndrome Distinctly Influence CYLD Proteostasis and NF-κB Signaling.

Truncating CYLD Pathogenic Variants in CYLD Cutaneous Syndrome Distinctly Influence CYLD Proteostasis and NF-κB Signaling.

Journal: The Journal of investigative dermatology

Published: June 19, 2023

Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.

Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.

Journal: International journal of molecular sciences

Published: June 01, 2023

Showing 1-12 of 24

Last Updated: 09/26/2026