Agnieszka Tomaszewska-Sobczynska

Wiktorii Wiedeńskiej 9a Street
Warsaw, MZ 02954, Poland

Last Updated: 09/26/2026

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Found 24 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

Alpha-methylacyl-CoA racemase (AMACR) deficiency: report on novel patient and literature review.

Alpha-methylacyl-CoA racemase (AMACR) deficiency: report on novel patient and literature review.

Journal: Journal of applied genetics

Published: July 07, 2025

Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.

Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.

Journal: The application of clinical genetics

Published: May 31, 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

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Journal: Orphanet journal of rare diseases

Published: January 04, 2024

Case report: VEXAS as an example of autoinflammatory syndrome in pulmonology clinical practice.

Case report: VEXAS as an example of autoinflammatory syndrome in pulmonology clinical practice.

Journal: Frontiers in medicine

Published: November 19, 2023

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Journal: Genes

Published: April 10, 2022

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.

Journal: The application of clinical genetics

Published: January 22, 2022

Gitelman syndrome with normocalciuria - a case report.

Gitelman syndrome with normocalciuria - a case report.

Journal: BMC nephrology

Published: January 12, 2022

Showing 1-12 of 24

Last Updated: 09/26/2026