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Page 1
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY, Smigiel R, Kuzniewska B, Chmielewska JJ, Kosińska J, Biela M, Biela A, Kościelniak A, Dobosz D, Laczmanska I, Chramiec-Głąbik A, Jeżowski J, Nowak J, Gos M, Rzonca-Niewczas S, Dziembowska M, Ploski R, Glatt S. Lin TY, et al. Among authors: biela m. Hum Mutat. 2022 Dec;43(12):2063-2078. doi: 10.1002/humu.24471. Epub 2022 Oct 2. Hum Mutat. 2022. PMID: 36125428 Free PMC article.
Distinct characteristics of multisystem inflammatory syndrome in children in Poland.
Ludwikowska KM, Okarska-Napierała M, Dudek N, Tracewski P, Kusa J, Piwoński KP, Afelt A, Cysewski D, Biela M, Werner B, Jackowska T, Suski-Grabowski C, Kursa MB, Kuchar E, Szenborn L; MOIS CoR Study Group. Ludwikowska KM, et al. Among authors: biela m. Sci Rep. 2021 Dec 7;11(1):23562. doi: 10.1038/s41598-021-02669-2. Sci Rep. 2021. PMID: 34876594 Free PMC article.
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela M, Rydzanicz M, Szymanska K, Pieniawska-Smiech K, Lewandowicz-Uszynska A, Chruszcz J, Benben L, Kuzior-Plawiak M, Szyld P, Jakubiak A, Szenborn L, Ploski R, Smigiel R. Biela M, et al. Mol Genet Genomic Med. 2021 Sep;9(9):e1772. doi: 10.1002/mgg3.1772. Epub 2021 Aug 2. Mol Genet Genomic Med. 2021. PMID: 34342181 Free PMC article. Review.
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
Stembalska A, Rydzanicz M, Klaniewska M, Dudarewicz L, Pollak A, Biela M, Stawinski P, Ploski R, Smigiel R. Stembalska A, et al. Among authors: biela m. Genes (Basel). 2022 Jul 27;13(8):1339. doi: 10.3390/genes13081339. Genes (Basel). 2022. PMID: 35893076 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. Among authors: biela m. J Clin Med. 2020 Jul 13;9(7):2220. doi: 10.3390/jcm9072220. J Clin Med. 2020. PMID: 32668698 Free PMC article.
15 results