Karolina Maciak
Warsaw, MZ, Poland
Last Updated: 09/26/2026
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Found 9 publications
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
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
A novel microRNA differentially expressed in patients with persistent and paroxysmal atrial fibrillation.
Journal: Polish archives of internal medicine
Published: December 22, 2023
PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
Journal: Blood cells, molecules & diseases
Published: December 21, 2023
Expression of versican mRNA transcript to predict cardiac remodelling after myocardial infarction.
Journal: Kardiologia polska
Published: June 17, 2021
Changes in MicroRNA Expression during Rabbit Hemorrhagic Disease Virus (RHDV) Infection.
Journal: Viruses
Published: August 04, 2020
A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report.
Journal: Frontiers in genetics
Published: May 08, 2020
Serum microRNA in patients undergoing atrial fibrillation ablation.
Journal: Scientific reports
Published: November 19, 2019
Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.
Journal: Blood cells, molecules & diseases
Published: August 09, 2019
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Last Updated: 09/26/2026