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Severe neonatal spondylometaphyseal dysplasia in two siblings.
Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz B, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K. Czarny-Ratajczak M, et al. Among authors: kuszel l. Am J Med Genet A. 2009 Oct;149A(10):2166-72. doi: 10.1002/ajmg.a.33016. Am J Med Genet A. 2009. PMID: 19764033
Osteoarthritis and telomere shortening.
Kuszel L, Trzeciak T, Richter M, Czarny-Ratajczak M. Kuszel L, et al. J Appl Genet. 2015 May;56(2):169-76. doi: 10.1007/s13353-014-0251-8. Epub 2014 Nov 4. J Appl Genet. 2015. PMID: 25366419 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: kuszel l. 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
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
Wawrocka A, Walczak-Sztulpa J, Socha M, Kuszel L, Sowinska-Seidler A, Budny B, Bukowska-Olech E, Pilas-Pomykalska M, Jamsheer A, Krawczynski MR. Wawrocka A, et al. Among authors: kuszel l. Am J Med Genet A. 2022 Feb;188(2):642-647. doi: 10.1002/ajmg.a.62559. Epub 2021 Nov 12. Am J Med Genet A. 2022. PMID: 34773354
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
Shaw M, Winczewska-Wiktor A, Badura-Stronka M, Koirala S, Gardner A, Kuszel Ł, Kowal P, Steinborn B, Starczewska M, Garry S, Scheffer IE, Berkovic SF, Gecz J. Shaw M, et al. Among authors: kuszel l. Eur J Med Genet. 2020 Apr;63(4):103799. doi: 10.1016/j.ejmg.2019.103799. Epub 2019 Oct 23. Eur J Med Genet. 2020. PMID: 31655144
16 results