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Page 1
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: ploszaj t. 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.
Gut microbiota in alopecia areata.
Brzychcy K, Dróżdż I, Skoczylas S, Płoszaj T, Sobolewska-Sztychny D, Skibińska M, Narbutt J, Lesiak A. Brzychcy K, et al. Among authors: ploszaj t. Postepy Dermatol Alergol. 2022 Dec;39(6):1162-1170. doi: 10.5114/ada.2022.120453. Epub 2022 Dec 22. Postepy Dermatol Alergol. 2022. PMID: 36686014 Free PMC article.
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Grzybowska-Adamowicz J, Gadzalska K, Jakiel P, Juścińska E, Gorządek M, Skoczylas S, Płoszaj T, Jarosz-Chobot P, Kowalska I, Myśliwiec M, Szadkowska A, Zmysłowska A. Grzybowska-Adamowicz J, et al. Among authors: ploszaj t. Genes (Basel). 2024 Dec 12;15(12):1592. doi: 10.3390/genes15121592. Genes (Basel). 2024. PMID: 39766859 Free PMC article.
Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome.
Zmysłowska-Polakowska E, Płoszaj T, Skoczylas S, Mojsak P, Ciborowski M, Kretowski A, Lukomska-Szymanska M, Szadkowska A, Mlynarski W, Zmysłowska A. Zmysłowska-Polakowska E, et al. Among authors: ploszaj t. Int J Mol Sci. 2023 Mar 15;24(6):5596. doi: 10.3390/ijms24065596. Int J Mol Sci. 2023. PMID: 36982670 Free PMC article.
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: ploszaj t. 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.
Glucocorticoids Induce Partial Remission of Focal Segmental Glomerulosclerosis but Not Interstitial Nephritis in COVID-19 Acute Kidney Injury in an APOL1 Low-Risk Genotype White Patient.
Nowak PJ, Forycka J, Cegielska N, Harendarz K, Wągrowska-Danilewicz M, Danilewicz M, Płoszaj T, Borowiec M, Wlazeł R, Nowicki M. Nowak PJ, et al. Among authors: ploszaj t. Am J Case Rep. 2021 Nov 2;22:e933462. doi: 10.12659/AJCR.933462. Am J Case Rep. 2021. PMID: 34727096 Free PMC article.
46 results