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Page 1
Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Study.
Rybak-Krzyszkowska M, Madetko-Talowska A, Szewczyk K, Bik-Multanowski M, Sakowicz A, Stejskal D, Trková M, Smetanová D, Serafim S, Correia H, Nevado J, Angeles Mori M, Mansilla E, Rutkowska L, Kucińska A, Gach A, Huras H, Kołak M, Srebniak MI. Rybak-Krzyszkowska M, et al. Among authors: gach a. Fetal Diagn Ther. 2024;51(5):453-462. doi: 10.1159/000539463. Epub 2024 May 31. Fetal Diagn Ther. 2024. PMID: 38815555 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: gach a. 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.
Finding NEMO in preeclampsia.
Sakowicz A, Hejduk P, Pietrucha T, Nowakowska M, Płuciennik E, Pospiech K, Gach A, Rybak-Krzyszkowska M, Sakowicz B, Kaminski M, Krasomski G, Biesiada L. Sakowicz A, et al. Among authors: gach a. Am J Obstet Gynecol. 2016 Apr;214(4):538.e1-538.e7. doi: 10.1016/j.ajog.2015.11.002. Epub 2015 Nov 10. Am J Obstet Gynecol. 2016. PMID: 26571191
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: gach a. 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.
63 results