Magdalena M. Kacprzak

Wiktorii Wiedeńskiej 9a Street
Warsaw, MZ 02954, Poland

Last Updated: 09/26/2026

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Found 13 publications

Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients.

Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients.

Journal: Open access rheumatology : research and reviews

Published: November 16, 2025

Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers-Danlos syndrome.

Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers-Danlos syndrome.

Journal: Frontiers in genetics

Published: August 20, 2025

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Journal: Journal of applied genetics

Published: May 21, 2025

Autosomal dominant myopathy caused by a novel ISCU variant.

Autosomal dominant myopathy caused by a novel ISCU variant.

Journal: Frontiers in genetics

Published: April 03, 2025

A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome.

A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome.

Journal: Bone

Published: January 24, 2025

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.

Journal: Archives of medical science : AMS

Published: August 31, 2024

Whole exome sequencing-based testing of adult epilepsy in a Polish population.

Whole exome sequencing-based testing of adult epilepsy in a Polish population.

Journal: Neurologia i neurochirurgia polska

Published: August 11, 2024

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.

Journal: Frontiers in immunology

Published: August 31, 2022

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.

Journal: Orphanet journal of rare diseases

Published: March 03, 2022

Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes.

Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes.

Journal: Frontiers in pediatrics

Published: January 03, 2021

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for Clinicians.

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for Clinicians.

Journal: Journal of clinical medicine

Published: December 30, 2020

A new family with spastic paraplegia type 51 and novel mutations in AP4E1.

A new family with spastic paraplegia type 51 and novel mutations in AP4E1.

Journal: BMC medical genomics

Published: November 09, 2020

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Last Updated: 09/26/2026