Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2005 1
2006 2
2007 1
2008 1
2009 2
2010 2
2011 3
2012 4
2013 2
2014 7
2015 3
2016 5
2017 3
2018 7
2019 4
2020 4
2021 11
2022 6
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

62 results

Results by year

Filters applied: . Clear all
Page 1
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Among authors: szczaluba k. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: szczaluba k. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.
Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, Szczaluba K, Mierzewska H, King SD, Santorelli FM, Yoon G, Trombetta B, Kivisäkk P, Zhang B, Sahin M, Ebrahimi-Fakhari D. Alecu JE, et al. Among authors: szczaluba k. Mov Disord. 2023 Sep;38(9):1742-1750. doi: 10.1002/mds.29524. Epub 2023 Jul 22. Mov Disord. 2023. PMID: 37482941
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Isidor B, et al. Among authors: szczaluba k. Genet Med. 2022 Jan;24(1):179-191. doi: 10.1016/j.gim.2021.09.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906456 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: szczaluba k. 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.
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: szczaluba k. Transfusion. 2022 Sep;62(9):E43-E44. doi: 10.1111/trf.17040. Epub 2022 Aug 6. Transfusion. 2022. PMID: 35932201 No abstract available.
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: szczaluba 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. Among authors: szczaluba k. Folia Neuropathol. 2018;56(4):362-371. doi: 10.5114/fn.2018.80870. Folia Neuropathol. 2018. PMID: 30786674 Free article.
62 results