Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophyMaria Jędrzejowska, Agnieszka Madej‐Pilarczyk, Anna Potulska‐Chromik et al.|European Journal of Paediatric Neurology|2021Cited by 7
The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal ReabsorptionJ Zawadzki, Elżbieta Ciara, Ryszard Grenda et al.|Genes|2025Cited by 3
X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA geneAgnieszka Madej‐Pilarczyk, Bożena Werner, Dorota Piekutowska‐Abramczuk et al.|Kardiologia Polska|2023Cited by 1
Giant ascending aortic aneurysm in a 12-year-old boy with a novel missense variant in the LOX geneAgnieszka Madej‐Pilarczyk, Lidia Ziółkowska, Monika Brzezińska et al.|Kardiologia Polska|2025Cited by 0
Albinism – symptomatology, aetiology, and therapyBeata Chałupczyńska, Agnieszka Madej‐Pilarczyk, Elżbieta Ciara et al.|Pediatria Polska|2025Cited by 0