Eszter Jávorszky

Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Eszter Balogh, Jennifer C. Chandler, Máté Varga et al. · Proceedings of the National Academy of Sciences · 2020 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs

Apor Veres-Székely, Domonkos Pap, Erna Sziksz et al. · BMC Molecular Biology · 2017 · 39 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +15

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

Tamás Szabó, Petronella Orosz, Eszter Balogh et al. · Pediatric Nephrology · 2018 · 34 citations · Full text

Life Sciences, Genetics, Pediatrics +16

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis

Andrea Kerti, Rózsa Csohány, László Wagner et al. · Pediatric Nephrology · 2013 · 26 citations

Medicine, Molecular Genetics, Nephrology +13

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

Bénédicte Buffin‐Meyer, Juliette Richard, Vincent Guigonis et al. · Kidney International Reports · 2024 · 18 citations · Full text

Medicine, Molecular Genetics, Nephrology +17