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

Year Number of Results
2003 2
2004 5
2007 1
2008 1
2010 1
2011 1
2012 2
2013 3
2014 3
2015 1
2016 3
2017 3
2018 4
2020 5
2021 3
2022 4
2023 7
2024 1

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45 results

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Page 1
The genetics of aniridia - simple things become complicated.
Wawrocka A, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. J Appl Genet. 2018 May;59(2):151-159. doi: 10.1007/s13353-017-0426-1. Epub 2018 Feb 19. J Appl Genet. 2018. PMID: 29460221 Free PMC article. Review.
Novel variants in the PAX6 gene related to isolated aniridia.
Kuchalska K, Wawrocka A, Krawczynski MR. Kuchalska K, et al. Among authors: krawczynski mr. Congenit Anom (Kyoto). 2023 Jul;63(4):109-115. doi: 10.1111/cga.12520. Epub 2023 May 16. Congenit Anom (Kyoto). 2023. PMID: 37191119
Achromatopsia mutations target sequential steps of ATF6 activation.
Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Chiang WC, et al. Among authors: krawczynski mr. Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27. Proc Natl Acad Sci U S A. 2017. PMID: 28028229 Free PMC article.
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, Jamsheer A, Bukowska-Olech E, Latos-Bieleńska A, Grenda R, Bongers EMHF, Schmidts M, Obersztyn E, Krawczyński MR, Oud MM. Walczak-Sztulpa J, et al. Among authors: krawczynski mr. Front Genet. 2022 Jul 7;13:931822. doi: 10.3389/fgene.2022.931822. eCollection 2022. Front Genet. 2022. PMID: 35873489 Free PMC article.
Co-occurrence of Jalili syndrome and muscular overgrowth.
Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6. Am J Med Genet A. 2017. PMID: 28586144
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.
Walczak-Sztulpa J, Wawrocka A, Kuszel Ł, Pietras P, Leśniczak-Staszak M, Andrusiewicz M, Krawczyński MR, Latos-Bieleńska A, Pawlak M, Grenda R, Materna-Kiryluk A, Oud MM, Szaflarski W. Walczak-Sztulpa J, et al. Among authors: krawczynski mr. Front Mol Biosci. 2023 Dec 12;10:1285790. doi: 10.3389/fmolb.2023.1285790. eCollection 2023. Front Mol Biosci. 2023. PMID: 38161384 Free PMC article.
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: krawczynski mr. J Appl Genet. 2015 Aug;56(3):317-27. doi: 10.1007/s13353-015-0281-x. Epub 2015 Mar 28. J Appl Genet. 2015. PMID: 25820994 Free PMC article. Review.
45 results