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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
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44 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.
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.
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.
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Ługowska A, Baydakova G, Ilyushkina A, Zakharova E, Mierzewska H, Szymańska K, Wierzba J, Kubalska J, Graban A, Kmieć T, Perkowska-Sumiła B, Tylki-Szymańska A, Bednarska-Makaruk M. Ługowska A, et al. Among authors: szymanska k. Diagnostics (Basel). 2021 Feb 16;11(2):320. doi: 10.3390/diagnostics11020320. Diagnostics (Basel). 2021. PMID: 33669444 Free PMC article.
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.
Spinal muscular atrophy: epidemiology and health burden in children - a Polish national healthcare database perspective before introduction of SMA-specific treatment.
Kostera-Pruszczyk A, Napiórkowski Ł, Szymańska K, Jędrzejczak J, Roszkowski M, Słowiński J, Frączek A, Ryglewicz D, Więckowska B. Kostera-Pruszczyk A, et al. Among authors: szymanska k. Neurol Neurochir Pol. 2021;55(5):479-484. doi: 10.5603/PJNNS.a2021.0074. Epub 2021 Oct 19. Neurol Neurochir Pol. 2021. PMID: 34664710 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.
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.
44 results