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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. 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.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J, Wawrocka A, Stańczyk M, Pesz K, Dudarewicz L, Chrul S, Bukowska-Olech E, Wieczorek-Cichecka N, Arts HH, Oud MM, Śmigiel R, Grenda R, Obersztyn E, Chrzanowska KH, Latos-Bieleńska A. Walczak-Sztulpa J, et al. Am J Med Genet A. 2021 Apr;185(4):1195-1203. doi: 10.1002/ajmg.a.62067. Epub 2021 Jan 9. Am J Med Genet A. 2021. PMID: 33421337
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. Front Genet. 2022 Jul 7;13:931822. doi: 10.3389/fgene.2022.931822. eCollection 2022. Front Genet. 2022. PMID: 35873489 Free PMC article.
22 results