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Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.
Koczkowska M, Jąkalski M, Birkholz-Walerzak D, Kostecka A, Iliszko M, Wójcik M, Lewandowski K, Milska-Musa K, Buckley PG, Drężek K, Juhas U, Kuziemska E, Maciejewska A, Pawłowski R, Wasąg B, Filipowicz N, Chojnowska K, Ławrynowicz U, Dumanski JP, Lipska-Ziętkiewicz BS, Mieczkowski J, Piotrowski A. Koczkowska M, et al. Among authors: lipska zietkiewicz bs. Sci Rep. 2022 Dec 2;12(1):20854. doi: 10.1038/s41598-022-25308-w. Sci Rep. 2022. PMID: 36460769 Free PMC article.
Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism.
Krawczyk MA, Styczewska M, Birkholz-Walerzak D, Iliszko M, Lipska-Zietkiewicz BS, Kosiak W, Irga-Jaworska N, Izycka-Swieszewska E, Bien E. Krawczyk MA, et al. J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):251-257. doi: 10.4274/jcrpe.galenos.2021.2021.0151. Epub 2021 Sep 21. J Clin Res Pediatr Endocrinol. 2022. PMID: 34544220 Free PMC article.
Mild phenotype of a large partial 13q trisomy.
Krygier M, Lipska-Zietkiewicz BS, Koczkowska M, Wierzba J, Limon J. Krygier M, et al. Clin Dysmorphol. 2014 Oct;23(4):155-7. doi: 10.1097/MCD.0000000000000052. Clin Dysmorphol. 2014. PMID: 25144153 No abstract available.
51 results