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Metabolites|July 25, 2025
The Complexity of Oxidative Stress in Human Age-Related Diseases-A ReviewAlicja Płóciniczak, Ewelina Bukowska-Olech, Ewa WysockaJournal of Applied Genetics|October 16, 2025
Recent advances in the diagnosis and molecular pathogenesis of holoprosencephaly: a reviewFilip Glista, Julia Nienartowicz, Ewelina Bukowska-OlechOrphanet Journal of Rare Diseases|January 30, 2024
Molecular landscape of congenital vertebral malformations: recent discoveries and future directionsAnna Szoszkiewicz, Ewelina Bukowska-Olech, Aleksander JamsheerBirth Defects Research|April 15, 2020
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Krzysztof Szczałuba, et al.Orphanet Journal of Rare Diseases|August 26, 2022
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariablyEwelina Bukowska-Olech, Anna Sowińska-Seidler, Jolanta Wierzba, et al.Journal of Applied Genetics|January 5, 2024
Chromatinopathies: insight in clinical aspects and underlying epigenetic changesEwelina Bukowska-Olech, Aleksandra Majchrzak-Celińska, Marta Przyborska, et al.European Journal of Medical Genetics|November 17, 2022
Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - the clinical and molecular summaryEwelina Bukowska-Olech, Filip Glista, April Dinwiddie, et al.Pediatric Nephrology (Berlin, Germany)|January 7, 2026
Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3Marcin Kołbuc, Bodo B Beck, Ewelina Bukowska-Olech, et al.Journal of Applied Genetics|April 12, 2025
Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapiesAnna Szoszkiewicz, Małgorzata Szczepanek, Ewelina Bukowska-Olech, et al.Journal of Applied Genetics|November 1, 2020
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature reviewEwelina Bukowska-Olech, Anna Sowińska-Seidler, Filip Łojek, et al.Pageof 5