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

Year Number of Results
2002 1
2003 1
2004 1
2005 2
2006 1
2008 1
2009 2
2010 3
2012 2
2013 2
2014 4
2015 3
2016 4
2017 2
2018 6
2019 2
2020 1
2021 6
2022 5
2023 1
2024 1

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45 results

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Page 1
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Among authors: szymanska k. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
POLG gene mutation. Clinico-neuropathological study.
Tarka S, Laure-Kamionowska M, Wierzba-Bobrowicz T, Witulska K, Ciara E, Szymańska K, Krajewski P, Stępień T, Acewicz A, Felczak P. Tarka S, et al. Among authors: szymanska k. Folia Neuropathol. 2020;58(4):386-392. doi: 10.5114/fn.2020.102441. Folia Neuropathol. 2020. PMID: 33480243 Free article.
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Badura-Stronka M, Śmigiel R, Rutkowska K, Szymańska K, Hirschfeld AS, Monkiewicz M, Kosińska J, Wolańska E, Rydzanicz M, Latos-Bieleńska A, Płoski R. Badura-Stronka M, et al. Among authors: szymanska k. Mol Genet Genomic Med. 2022 Apr;10(4):e1899. doi: 10.1002/mgg3.1899. Epub 2022 Mar 7. Mol Genet Genomic Med. 2022. PMID: 35255187 Free PMC article.
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: szymanska k. 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.
A novel KEL c.1414-1G>T allele in a polish patient with anti-Ku antibody.
Pelc-Kłopotowska M, Płoski R, Szczałuba K, Szymańska K, Rydzanicz M, Purchla-Szepioła S, Kolasińska K, Lewicka M, Thornton N, Crew VK, Orzińska A, Guz K. Pelc-Kłopotowska M, et al. Among authors: szymanska k. Transfusion. 2022 Sep;62(9):E43-E44. doi: 10.1111/trf.17040. Epub 2022 Aug 6. Transfusion. 2022. PMID: 35932201 No abstract available.
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K. Riedhammer KM, et al. Among authors: szymanska k. Brain. 2021 Mar 3;144(2):411-419. doi: 10.1093/brain/awaa410. Brain. 2021. PMID: 33313762 Free PMC article.
The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral.
Rybakowski F, Chojnicka I, Dziechciarz P, Horvath A, Janas-Kozik M, Jeziorek A, Pisula E, Piwowarczyk A, Słopień A, Sykut-Cegielska J, Szajewska H, Szczałuba K, Szymańska K, Waligórska A, Wojciechowska A, Wroniszewski M, Dunajska A. Rybakowski F, et al. Among authors: szymanska k. Psychiatr Pol. 2016;50(3):543-54. doi: 10.12740/PP/43234. Psychiatr Pol. 2016. PMID: 27556113 Free article. Review. English, Polish.
Clinico-pathological correlation in case of BRAT1 mutation.
Szymańska K, Laure-Kamionowska M, Szczałuba K, Koppolu A, Furmanek M, Kuśmierska K, Boniel S, Płoski R, Rydzanicz M. Szymańska K, et al. Folia Neuropathol. 2018;56(4):362-371. doi: 10.5114/fn.2018.80870. Folia Neuropathol. 2018. PMID: 30786674 Free 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. Among authors: szymanska k. 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.
45 results