Author Günthner, Roman
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2019 | Journal Article |
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
Macheroux, E. P.; Braunisch, M. C.; Pucci Pegler, S.; Satanovskij, R.; Riedhammer, K. M.; Günthner, R. & Gross, O. et al. (2019)
Frontiers in Pediatrics, 7. DOI: https://doi.org/10.3389/fped.2019.00485
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2022 | Journal Article
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Günthner, R.; Knipping, L.; Jeruschke, S.; Satanoskij, R.; Lorenz-Depiereux, B.; Hemmer, C. & Braunisch, M. C. et al. (2022)
Frontiers in Medicine, 9 art. 953643. DOI: https://doi.org/10.3389/fmed.2022.953643
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2022 | Journal Article |
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience
Ćomić, J.; Riedhammer, K. M.; Günthner, R.; Schaaf, C. W.; Richthammer, P.; Simmendinger, H. & Kieffer, D. et al. (2022)
Frontiers in Medicine, 9 art. 957733. DOI: https://doi.org/10.3389/fmed.2022.957733
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