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Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.
Kałużewski T, Kubiak I, Bednarek M, Sałamunia J, Kucharska D, Kępczyński Ł, Stempień M, Kubicki T, Trzciński R, Gordon-Sönmez Z, Bartosińska-Dyc A, Gach A, Kałużewski B. Kałużewski T, et al. Among authors: kepczynski l. Int J Mol Sci. 2023 Aug 24;24(17):13178. doi: 10.3390/ijms241713178. Int J Mol Sci. 2023. PMID: 37685988 Free PMC article.
The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, RB1 and ERBB2 Somatic Mutations.
Kałużewski T, Przybylski GK, Bednarek M, Glazar S, Grabiec M, Jędrzejczyk A, Kępczyński Ł, Kubiak I, Kucharska D, Morel A, Owczarek M, Rożniecki M, Sałamunia J, Szewczyk D, Szwalski J, Kałużewski B. Kałużewski T, et al. Among authors: kepczynski l. J Pers Med. 2021 Apr 30;11(5):362. doi: 10.3390/jpm11050362. J Pers Med. 2021. PMID: 33946229 Free PMC article.
Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.
Sałacińska K, Pinkier I, Rutkowska L, Chlebna-Sokół D, Jakubowska-Pietkiewicz E, Michałus I, Kępczyński Ł, Salachna D, Jamsheer A, Bukowska-Olech E, Jaszczuk I, Jakubowski L, Gach A. Sałacińska K, et al. Among authors: kepczynski l. Front Genet. 2021 Jul 9;12:692978. doi: 10.3389/fgene.2021.692978. eCollection 2021. Front Genet. 2021. PMID: 34306033 Free PMC article.
The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.
Sałacińska K, Michałus I, Pinkier I, Rutkowska L, Chlebna-Sokół D, Jakubowska-Pietkiewicz E, Kępczyński Ł, Salachna D, Gach A. Sałacińska K, et al. Among authors: kepczynski l. Mol Genet Genomic Med. 2022 Aug;10(8):e1996. doi: 10.1002/mgg3.1996. Epub 2022 Jun 24. Mol Genet Genomic Med. 2022. PMID: 35748117 Free PMC article.
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
Rutkowska L, Pinkier I, Sałacińska K, Kępczyński Ł, Salachna D, Lewek J, Banach M, Matusik P, Starostecka E, Lewiński A, Płoski R, Stawiński P, Gach A. Rutkowska L, et al. Among authors: kepczynski l. Genes (Basel). 2022 Aug 10;13(8):1424. doi: 10.3390/genes13081424. Genes (Basel). 2022. PMID: 36011335 Free PMC article.
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