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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: hilscherova s.
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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The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis.
Pleva L, Kovarova P, Faldynova L, Plevova P, Hilscherova S, Zapletalova J, Kusnierova P, Kukla P.
Pleva L, et al. Among authors: hilscherova s.
BMC Cardiovasc Disord. 2015 Oct 24;15:135. doi: 10.1186/s12872-015-0128-8.
BMC Cardiovasc Disord. 2015.
PMID: 26497592
Free PMC article.
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GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD).
Walczysková S, Ressner P, Hilscherová Š, Kotlas J, Konrád J, Svobodová V.
Walczysková S, et al. Among authors: hilscherova s.
Folia Neuropathol. 2017;55(1):67-72. doi: 10.5114/fn.2017.66715.
Folia Neuropathol. 2017.
PMID: 28430294
Free article.
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