Author Günthner, Roman

1 to 3 of 3 Items
  • 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 Pediatrics7.​ DOI: https://doi.org/10.3389/fped.2019.00485 
    Details  DOI 
  • 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 Medicine9 art. 953643​.​ DOI: https://doi.org/10.3389/fmed.2022.953643 
    Details  DOI 
  • 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 Medicine9 art. 957733​.​ DOI: https://doi.org/10.3389/fmed.2022.957733 
    Details  DOI 

Researcher

Sort

issue date

ASC DESC

Items per Page