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2020 3
2021 3
2022 4
2023 2
2024 0

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Page 1
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Gach A, Pinkier I, Wysocka U, Sałacińska K, Salachna D, Szarras-Czapnik M, Pietrzyk A, Sakowicz A, Nykel A, Rutkowska L, Rybak-Krzyszkowska M, Socha M, Jamsheer A, Jakubowski L. Gach A, et al. Among authors: pinkier i. Arch Med Sci. 2020 Sep 18;18(2):353-364. doi: 10.5114/aoms.2020.98909. eCollection 2022. Arch Med Sci. 2020. PMID: 35316923 Free PMC article.
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Sałacińska K, Pinkier I, Rutkowska L, Chlebna-Sokół D, Jakubowska-Pietkiewicz E, Michałus I, Kępczyński Ł, Salachna D, Wieczorek-Cichecka N, Piotrowicz M, Chilarska T, Jamsheer A, Matusik P, Wilk M, Petriczko E, Giżewska M, Stecewicz I, Walczak M, Rybak-Krzyszkowska M, Lewiński A, Gach A. Sałacińska K, et al. Among authors: pinkier i. Front Endocrinol (Lausanne). 2023 Sep 22;14:1149982. doi: 10.3389/fendo.2023.1149982. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37810882 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: pinkier i. 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: pinkier i. Genes (Basel). 2022 Aug 10;13(8):1424. doi: 10.3390/genes13081424. Genes (Basel). 2022. PMID: 36011335 Free PMC article.
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.
Gach A, Pinkier I, Sałacińska K, Szarras-Czapnik M, Salachna D, Kucińska A, Rybak-Krzyszkowska M, Sakowicz A. Gach A, et al. Among authors: pinkier i. Mol Cell Endocrinol. 2020 Nov 1;517:110968. doi: 10.1016/j.mce.2020.110968. Epub 2020 Aug 4. Mol Cell Endocrinol. 2020. PMID: 32763379
11 results