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Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R. Smigiel R, et al. Hum Mol Genet. 2018 Nov 1;27(21):3669-3674. doi: 10.1093/hmg/ddy277. Hum Mol Genet. 2018. PMID: 30124836 Free PMC article.
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Śmigiel R, Biela M, Szmyd K, Błoch M, Szmida E, Skiba P, Walczak A, Gasperowicz P, Kosińska J, Rydzanicz M, Stawiński P, Biernacka A, Zielińska M, Gołębiowski W, Jalowska A, Ohia G, Głowska B, Walas W, Królak-Olejnik B, Krajewski P, Sykut-Cegielska J, Sąsiadek MM, Płoski R. Śmigiel R, et al. J Clin Med. 2020 Jul 13;9(7):2220. doi: 10.3390/jcm9072220. J Clin Med. 2020. PMID: 32668698 Free PMC article.
Effects of Early versus Standard Central Line Removal on the Growth of Preterm Infants with Very Low Birth Weight: A Non-Inferiority, Randomized Clinical Trial.
Romańska J, Wawrzoniak T, Krajewski P, Seliga-Siwecka J, Brunets N, Lehman I, Bokiniec R, Adamska E, Królak-Olejnik B, Modzelewski J, Szczapa T. Romańska J, et al. Among authors: krolak olejnik b. Nutrients. 2022 Nov 11;14(22):4766. doi: 10.3390/nu14224766. Nutrients. 2022. PMID: 36432453 Free PMC article. Clinical Trial.
Perinatalna opieka paliatywna realizowana w oddziale położniczym i neonatologicznym we współpracy z hospicjum dla dzieci - doświadczenia własne.
Jalowska A, Krzeszowiak J, Stembalska A, Szmyd K, Zimmer M, Jagielska G, Raś M, Pasławska A, Szafrańska A, Paluszyńska D, Fuchs T, Pesz K, Sąsiadek M, Królak-Olejnik B, Śmigiel R. Jalowska A, et al. J Mother Child. 2021 Jan 29;23(4):253-262. doi: 10.34763/devperiodmed.20192304.253262. J Mother Child. 2021. PMID: 34705354 Free article.
SARS-CoV-2 Infection and Pregnancy: Maternal and Neonatal Outcomes and Placental Pathology Correlations.
Pomorski M, Trzeszcz M, Matera-Witkiewicz A, Krupińska M, Fuchs T, Zimmer M, Zimmer-Stelmach A, Rosner-Tenerowicz A, Budny-Wińska J, Tarczyńska-Podraza A, Radziejewska K, Królak-Olejnik B, Szczygieł A, Augustyniak-Bartosik H, Kuriata-Kordek M, Skalec K, Smoła I, Morgiel E, Gawryś J, Doroszko A, Rola P, Trocha M, Kujawa K, Adamik B, Kaliszewski K, Kiliś-Pstrusińska K, Protasiewicz M, Sokołowski J, Jankowska EA, Madziarska K. Pomorski M, et al. Viruses. 2022 Sep 14;14(9):2043. doi: 10.3390/v14092043. Viruses. 2022. PMID: 36146849 Free PMC article.
69 results