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

Year Number of Results
2002 2
2004 2
2005 5
2006 1
2007 2
2008 6
2009 9
2010 4
2011 7
2012 5
2013 3
2014 1
2015 4
2016 13
2017 14
2018 21
2019 20
2020 24
2021 28
2022 14
2023 14
2024 3

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174 results

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Page 1
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: rydzanicz m. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.
Bzdęga K, Kutkowska-Kaźmierczak A, Deutsch GH, Plaskota I, Smyk M, Niemiec M, Barczyk A, Obersztyn E, Modzelewski J, Lipska I, Stankiewicz P, Gajecka M, Rydzanicz M, Płoski R, Szczapa T, Karolak JA. Bzdęga K, et al. Among authors: rydzanicz m. Genes (Basel). 2023 Feb 23;14(3):563. doi: 10.3390/genes14030563. Genes (Basel). 2023. PMID: 36980834 Free PMC article.
Enteroviral central nervous system infections in patients with Lyme neuroborreliosis.
Perlejewski K, Radkowski M, Pawełczyk A, Rydzanicz M, Dzieciątkowski T, Makowiecki M, Paciorek M, Welc-Falęciak R, Horban A, Laskus T. Perlejewski K, et al. Among authors: rydzanicz m. Ticks Tick Borne Dis. 2023 Nov;14(6):102253. doi: 10.1016/j.ttbdis.2023.102253. Epub 2023 Sep 18. Ticks Tick Borne Dis. 2023. PMID: 37729847 Free article.
Cryptic MYC insertions in Burkitt lymphoma: New data and a review of the literature.
Woroniecka R, Rymkiewicz G, Szafron LM, Blachnio K, Szafron LA, Bystydzienski Z, Pienkowska-Grela B, Borkowska K, Rygier J, Kotyl A, Malawska N, Wojtkowska K, Parada J, Borysiuk A, Murcia Pienkowski V, Rydzanicz M, Grygalewicz B. Woroniecka R, et al. Among authors: rydzanicz m. PLoS One. 2022 Feb 15;17(2):e0263980. doi: 10.1371/journal.pone.0263980. eCollection 2022. PLoS One. 2022. PMID: 35167621 Free PMC article. Review.
[Myopia in systemic disorders].
Mrugacz M, Rydzanicz M, Frajdenberg A, Podfigurna-Musielak M, Gajecka M. Mrugacz M, et al. Among authors: rydzanicz m. Klin Oczna. 2009;111(1-3):84-8. Klin Oczna. 2009. PMID: 19517854 Review. Polish.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. Hijazi H, et al. Among authors: rydzanicz m. Am J Hum Genet. 2022 Dec 1;109(12):2270-2282. doi: 10.1016/j.ajhg.2022.10.007. Epub 2022 Nov 10. Am J Hum Genet. 2022. PMID: 36368327 Free PMC article.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U. Loong L, et al. Among authors: rydzanicz m. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2. Genet Med. 2023. PMID: 36322149 Free article.
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R. Klaniewska M, et al. Among authors: rydzanicz m. Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1. Mol Genet Genomic Med. 2023. PMID: 37658610 Free PMC article.
174 results