Magdalena Badura-Stronka

Years Active: 2021-2024
Publications (10 Years): 4

This page only lists publications with an associated author ORCID identifier.

Publications

Magdalena Badura-Stronka, Adam Sebastian Hirschfeld, Evgenia Globa, Anna Winczewska-Wiktor, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Dorota Wicher, Maciej Robert Krawczyński
Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia. Journal of applied genetics (2024)
Magdalena Badura-Stronka, Robert Śmigiel, Karolina Rutkowska, Krystyna Szymańska, Adam Sebastian Hirschfeld, Michał Monkiewicz, Joanna Kosińska, Ewelina Wolańska, Małgorzata Rydzanicz, Anna Latos-Bieleńska, Ploski Rafal
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood. Molecular genetics & genomic medicine 10 (4) (2022)
Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Pietrzak, Adam Sebastian Hirschfeld, Tomasz Zemojtel, Katarzyna Wołyńska, Katarzyna Bednarek-Rajewska, Monika Seget-Dubaniewicz, Agnieszka Matheisel, Anna Latos-Bielenska, Barbara Steinborn
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report. Genes 12 (7) (2021)
Magdalena Badura-Stronka, Adam Sebastian Hirschfeld, Anna Winczewska-Wiktor, Edyta Budzyńska, Anna Jakubiuk-Tomaszuk, Anita Piontek, Barbara Steinborn, Wojciech Kozubski
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century. Clinical genetics (2021)

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