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Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes.
Zmysłowska A, Jakiel P, Gadzalska K, Majos A, Płoszaj T, Ben-Skowronek I, Deja G, Glowinska-Olszewska B, Jarosz-Chobot P, Klonowska B, Kowalska I, Mlynarski W, Mysliwiec M, Nazim J, Noczynska A, Robak-Kontna K, Skala-Zamorowska E, Skowronska B, Szadkowska A, Szypowska A, Walczak M, Borowiec M. Zmysłowska A, et al. Among authors: gadzalska k. Diabetes Res Clin Pract. 2022 Jan;183:109154. doi: 10.1016/j.diabres.2021.109154. Epub 2021 Nov 24. Diabetes Res Clin Pract. 2022. PMID: 34826540 Free article.
Wolfram-like syndrome - another face of a rare disease in children.
Smetek M, Gadzalska K, Jakiel P, Grzybowska J, Mysliwiec M, Borowiec M, Zmysłowska A. Smetek M, et al. Among authors: gadzalska k. J Pediatr Endocrinol Metab. 2021 Oct 13;35(1):121-124. doi: 10.1515/jpem-2021-0348. Print 2022 Jan 27. J Pediatr Endocrinol Metab. 2021. PMID: 34643356
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.
Skoczylas S, Jakiel P, Płoszaj T, Gadzalska K, Borowiec M, Pastorczak A, Moczulska H, Malarska M, Eckersdorf-Mastalerz A, Budzyńska E, Zmysłowska A. Skoczylas S, et al. Among authors: gadzalska k. Neurogenetics. 2023 Oct;24(4):221-229. doi: 10.1007/s10048-023-00724-w. Epub 2023 Jul 5. Neurogenetics. 2023. PMID: 37405542 Free PMC article.