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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 1
2004 6
2005 8
2006 4
2007 9
2008 9
2009 11
2010 14
2011 14
2012 13
2013 16
2014 26
2015 29
2016 33
2017 42
2018 41
2019 43
2020 39
2021 54
2022 30
2023 25
2024 11

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418 results

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Page 1
Clinical and genetic yield of familial screening after sudden unexplained death at young age.
Chmielewski P, Świerczewski M, Foss-Nieradko B, Ponińska J, Biernacka EK, Kowalik I, Stępień-Wojno M, Michalak E, Truszkowska G, Baranowski R, Bilińska M, Płoski R, Bilińska ZT. Chmielewski P, et al. Among authors: ploski r. Kardiol Pol. 2024 Mar 17. doi: 10.33963/v.phj.99617. Online ahead of print. Kardiol Pol. 2024. PMID: 38493454 Free article. No abstract available.
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Bayat A, Iavarone S, Miceli F, Jakobsen AV, Johannesen KM, Nikanorova M, Ploski R, Szymanska K, Flamini R, Cooper EC, Weckhuysen S, Taglialatela M, Møller RS. Bayat A, et al. Among authors: ploski r. Neurotherapeutics. 2024 Jan;21(1):e00296. doi: 10.1016/j.neurot.2023.10.006. Epub 2023 Dec 19. Neurotherapeutics. 2024. PMID: 38241158 Free PMC article.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: ploski r. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes.
Gajecka M, Gutaj P, Jaskiewicz K, Rydzanicz M, Szczapa T, Kaminska D, Kosewski G, Przyslawski J, Ploski R, Wender-Ozegowska E. Gajecka M, et al. Among authors: ploski r. Diabetologia. 2024 Feb;67(2):312-326. doi: 10.1007/s00125-023-06047-7. Epub 2023 Nov 29. Diabetologia. 2024. PMID: 38030736 Free PMC article.
Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease.
Ponińska JK, Pelczar-Płachta W, Pollak A, Jończyk-Potoczna K, Truszkowska G, Michałowska I, Szafran E, Bilińska ZT, Bobkowski W, Płoski R. Ponińska JK, et al. Among authors: ploski r. Genes (Basel). 2023 Oct 24;14(11):1983. doi: 10.3390/genes14111983. Genes (Basel). 2023. PMID: 38002926 Free PMC article.
418 results