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A new family with spastic paraplegia type 51 and novel mutations in AP4E1.
Winkler I, Miotła P, Lejman M, Pietrzyk A, Kacprzak M, Kubiak M, Sobczyńska-Tomaszewska A, Skrzypczak M, Jaszczuk I. Winkler I, et al. Among authors: jaszczuk i. BMC Med Genomics. 2021 May 18;14(1):131. doi: 10.1186/s12920-021-00980-5. BMC Med Genomics. 2021. PMID: 34006278 Free PMC article.
Structural and numerical abnormalities resolved in one-step analysis: the most common chromosomal rearrangements detected by comparative genomic hybridization in childhood acute lymphoblastic leukemia.
Kowalczyk JR, Babicz M, Gaworczyk A, Lejman M, Winnicka D, Styka B, Jaszczuk I. Kowalczyk JR, et al. Among authors: jaszczuk i. Cancer Genet Cytogenet. 2010 Jul 15;200(2):161-6. doi: 10.1016/j.cancergencyto.2010.04.016. Cancer Genet Cytogenet. 2010. PMID: 20620600
The role of miRNA-210 in pre-eclampsia development.
Jaszczuk I, Koczkodaj D, Kondracka A, Kwaśniewska A, Winkler I, Filip A. Jaszczuk I, et al. Ann Med. 2022 Dec;54(1):1350-1356. doi: 10.1080/07853890.2022.2071459. Ann Med. 2022. PMID: 35543206 Free PMC article. Review.
A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis.
Winkler I, Jaszczuk I, Gogacz M, Szkodziak P, Paszkowski T, Skorupska K, Ciebiera M, Skrzypczak M. Winkler I, et al. Among authors: jaszczuk i. Int J Environ Res Public Health. 2022 Apr 20;19(9):5027. doi: 10.3390/ijerph19095027. Int J Environ Res Public Health. 2022. PMID: 35564421 Free PMC article.
The Role of Cluster C19MC in Pre-Eclampsia Development.
Jaszczuk I, Winkler I, Koczkodaj D, Skrzypczak M, Filip A. Jaszczuk I, et al. Int J Mol Sci. 2022 Nov 10;23(22):13836. doi: 10.3390/ijms232213836. Int J Mol Sci. 2022. PMID: 36430313 Free PMC article. Review.
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: jaszczuk i. Front Genet. 2021 Jul 9;12:692978. doi: 10.3389/fgene.2021.692978. eCollection 2021. Front Genet. 2021. PMID: 34306033 Free PMC article.
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