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Year Number of Results
2005 1
2006 1
2007 2
2010 1
2013 1
2017 1
2018 3
2019 4
2020 4
2021 2
2022 2
2024 0

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17 results

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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: chmielewska jj. 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.
PTPN4 germline variants result in aberrant neurodevelopment and growth.
Chmielewska JJ, Burkardt D, Granadillo JL, Slaugh R, Morgan S, Rotenberg J, Keren B, Mignot C, Escobar L, Turnpenny P, Zuteck M, Seaver LH, Ploski R, Dziembowska M, Wynshaw-Boris A, Adegbola A. Chmielewska JJ, et al. HGG Adv. 2021 Jul 8;2(3):100033. doi: 10.1016/j.xhgg.2021.100033. Epub 2021 Apr 5. HGG Adv. 2021. PMID: 34527963 Free PMC article.
The NuRD chromatin-remodeling complex enzyme CHD4 prevents hypoxia-induced endothelial Ripk3 transcription and murine embryonic vascular rupture.
Colijn S, Gao S, Ingram KG, Menendez M, Muthukumar V, Silasi-Mansat R, Chmielewska JJ, Hinsdale M, Lupu F, Griffin CT. Colijn S, et al. Among authors: chmielewska jj. Cell Death Differ. 2020 Feb;27(2):618-631. doi: 10.1038/s41418-019-0376-8. Epub 2019 Jun 24. Cell Death Differ. 2020. PMID: 31235857 Free PMC article.
The role of focal infections in the pathogenesis of psoriasis and chronic urticaria.
Brzewski PŁ, Spałkowska M, Podbielska M, Chmielewska J, Wołek M, Malec K, Wojas-Pelc A. Brzewski PŁ, et al. Among authors: chmielewska j. Postepy Dermatol Alergol. 2013 Apr;30(2):77-84. doi: 10.5114/pdia.2013.34155. Epub 2013 Apr 12. Postepy Dermatol Alergol. 2013. PMID: 24278052 Free PMC article.
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.
Szczałuba K, Chmielewska JJ, Sokolowska O, Rydzanicz M, Szymańska K, Feleszko W, Włodarski P, Biernacka A, Murcia Pienkowski V, Walczak A, Bargeł E, Królewczyk K, Nowacka A, Stawiński P, Nowis D, Dziembowska M, Płoski R. Szczałuba K, et al. Among authors: chmielewska jj. Clin Genet. 2018 Dec;94(6):581-585. doi: 10.1111/cge.13450. Epub 2018 Oct 11. Clin Genet. 2018. PMID: 30238967
17 results