Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
2020 · Genetics in Medicine · 45 citations
https://doi.org/10.1038/s41436-020-0816-3
R
Ria Schönauer
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Ria Schönauer is an academic researcher from Humboldt-Universität zu Berlin. The author has contributed to research in topics: Genetic and Kidney Cyst Diseases & Renal and related cancers & Renal Diseases and Glomerulopathies. The author has an h-index of 13, co-authored 41 publications.
ORCID: 0000-0001-7609-3061Papers by this author
worksDefective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly
2021 · Genes & Diseases · 20 citations
https://doi.org/10.1016/j.gendis.2021.06.006
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
2023 · Gastroenterology · 6 citations
https://doi.org/10.1053/j.gastro.2023.12.007
In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease
2025 · Molecular Therapy · 2 citations
https://doi.org/10.1016/j.ymthe.2025.08.026
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