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Correction to: The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.
Daca-Roszak P, Fiedorowicz J, Jankowski M, Ciesielka M, Teresiński G, Lipska-Ziętkiewicz B, Ziętkiewicz E, Grzybowski T, Skonieczna K. Daca-Roszak P, et al. Among authors: lipska zietkiewicz b. J Appl Genet. 2024 Apr 13. doi: 10.1007/s13353-024-00864-1. Online ahead of print. J Appl Genet. 2024. PMID: 38609674 No abstract available.
The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.
Daca-Roszak P, Fiedorowicz J, Jankowski M, Ciesielka M, Teresiński G, Lipska-Zietkiewicz B, Zietkiewicz E, Grzybowski T, Skonieczna K. Daca-Roszak P, et al. Among authors: lipska zietkiewicz b. J Appl Genet. 2023 Dec 19. doi: 10.1007/s13353-023-00821-4. Online ahead of print. J Appl Genet. 2023. PMID: 38110828
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: lipska zietkiewicz bs. Eur J Hum Genet. 2024 Jan;32(1):132. doi: 10.1038/s41431-023-01288-x. Eur J Hum Genet. 2024. PMID: 36721056 Free PMC article. No abstract available.
Correction: The 2019 and 2021 International workshops on Alport syndrome.
Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. Daga S, et al. Among authors: lipska zietkiewicz bs. Eur J Hum Genet. 2024 Jan;32(1):130. doi: 10.1038/s41431-023-01286-z. Eur J Hum Genet. 2024. PMID: 36690832 Free PMC article. No abstract available.
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.
Koczkowska M, Jąkalski M, Birkholz-Walerzak D, Kostecka A, Iliszko M, Wójcik M, Lewandowski K, Milska-Musa K, Buckley PG, Drężek K, Juhas U, Kuziemska E, Maciejewska A, Pawłowski R, Wasąg B, Filipowicz N, Chojnowska K, Ławrynowicz U, Dumanski JP, Lipska-Ziętkiewicz BS, Mieczkowski J, Piotrowski A. Koczkowska M, et al. Among authors: lipska zietkiewicz bs. Sci Rep. 2022 Dec 2;12(1):20854. doi: 10.1038/s41598-022-25308-w. Sci Rep. 2022. PMID: 36460769 Free PMC article.
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression.
Trautmann A, Seide S, Lipska-Ziętkiewicz BS, Ozaltin F, Szczepanska M, Azocar M, Jankauskiene A, Zurowska A, Caliskan S, Saeed B, Morello W, Emma F, Litwin M, Tsygin A, Fomina S, Wasilewska A, Melk A, Benetti E, Gellermann J, Stajic N, Tkaczyk M, Baiko S, Prikhodina L, Csaicsich D, Medynska A, Krisam R, Breitschwerdt H, Schaefer F; PodoNet Consortium. Trautmann A, et al. Among authors: lipska zietkiewicz bs. Pediatr Nephrol. 2023 May;38(5):1499-1511. doi: 10.1007/s00467-022-05762-4. Epub 2022 Oct 31. Pediatr Nephrol. 2023. PMID: 36315273 Free PMC article.
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Marbach F, Lipska-Ziętkiewicz BS, Knurowska A, Michaud V, Margot H, Lespinasse J, Tran Mau Them F, Coubes C, Park J, Grosch S, Roggia C, Grasshoff U, Kalsner L, Denommé-Pichon AS, Afenjar A, Héron B, Keren B, Caro P, Schaaf CP. Marbach F, et al. Among authors: lipska zietkiewicz bs. Am J Med Genet A. 2022 Sep;188(9):2627-2636. doi: 10.1002/ajmg.a.62884. Epub 2022 Jul 5. Am J Med Genet A. 2022. PMID: 35789103
53 results