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A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Front Med (Lausanne). 2023 Feb 8;10:1096869. doi: 10.3389/fmed.2023.1096869. eCollection 2023.
Front Med (Lausanne). 2023.
PMID: 36844206
Free PMC article.
Non-invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an "in-house" target enrichment next generation sequencing-Solution for non-centralized NIPT laboratory?
Faldynová L, Walczysková S, Černá D, Kudrejová M, Hilscherová Š, Kaniová R, Širůčková S.
Faldynová L, et al. Among authors: kudrejova m.
Prenat Diagn. 2023 Sep;43(10):1320-1332. doi: 10.1002/pd.6421. Epub 2023 Aug 21.
Prenat Diagn. 2023.
PMID: 37602788
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