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Case report: Neonatal diabetes mellitus with congenital hypothyroidism as a result of biallelic heterozygous mutations in GLIS3 gene.
Pediatr Diabetes. 2022 Sep;23(6):668-674. doi: 10.1111/pedi.13341. Epub 2022 Apr 24.
Pediatr Diabetes. 2022.
PMID: 35394098
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.
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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
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Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype.
Płoszaj T, Skoczylas S, Gadzalska K, Jakiel P, Juścińska E, Gorządek M, Robaszkiewicz A, Borowiec M, Zmysłowska A.
Płoszaj T, et al. Among authors: gadzalska k.
Int J Mol Sci. 2024 Feb 19;25(4):2438. doi: 10.3390/ijms25042438.
Int J Mol Sci. 2024.
PMID: 38397113
Free PMC article.
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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.
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