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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: wawrocka a. Front Genet. 2022 Jul 7;13:931822. doi: 10.3389/fgene.2022.931822. eCollection 2022. Front Genet. 2022. PMID: 35873489 Free PMC article.
PAX6 3' deletion in a family with aniridia.
Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowinska A, Krawczynski MR. Wawrocka A, et al. Ophthalmic Genet. 2012 Mar;33(1):44-8. doi: 10.3109/13816810.2011.615076. Epub 2011 Oct 10. Ophthalmic Genet. 2012. PMID: 21985185
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: wawrocka a. 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.
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, Kuszel L, Zawadzki J, Grenda R, Swiader-Lesniak A, Kocyla-Karczmarewicz B, Wnuk A, Latos-Bielenska A, Chrzanowska KH. Walczak-Sztulpa J, et al. Among authors: wawrocka a. Am J Med Genet A. 2017 May;173(5):1364-1368. doi: 10.1002/ajmg.a.38163. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332779
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. 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
32 results