Publications by authors named "Anna Szoszkiewicz"

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The role of pharmacogenetics in the therapy regimen of acute lymphoblastic leukemia in children: recent discoveries and future perspectives.
Anna Szoszkiewicz, Alina Światłowska, Katarzyna Derwich, Aleksander Jamsheer, Błażej Rubiś

Pharmacol Rep· January 2026

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Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.
Anna Szoszkiewicz, Ewelina Bukowska-Olech, Paweł Kurzawa, Anna Sowińska-Seidler, Marek Niedziela

Orphanet J Rare Dis· November 2025

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Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.
Anna Szoszkiewicz, Małgorzata Szczepanek, Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Magdalena Socha

J Appl Genet· April 2025

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Intrafamilial Phenotypic Variability of the p.Cys277Tyr Variant: A Case Report and Review of the Literature.
Anna Szoszkiewicz, Anna Sowińska-Seidler, Karolina Gruca-Stryjak, Aleksander Jamsheer

Genes (Basel)· April 2025

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Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.
Anna Szoszkiewicz, Ewelina Bukowska-Olech, Aleksander Jamsheer

Orphanet J Rare Dis· January 2024

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A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.
Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer

Front Mol Biosci· October 2023

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A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer

J Appl Genet· February 2023

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Lichen Secondary Metabolites Inhibit the Wnt/β-Catenin Pathway in Glioblastoma Cells and Improve the Anticancer Effects of Temozolomide.
Aleksandra Majchrzak-Celińska, Robert Kleszcz, Elżbieta Studzińska-Sroka, Agnieszka Łukaszyk, Anna Szoszkiewicz

Cells· March 2022

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