Research output per year
Research output per year
Search results
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2022
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
Feichtinger, R. (First author), Preisel, M., Steinbrücker, K. (Co-author), Brugger, K., Radda, A., Wortmann, S. (Last author) & Mayr, J. A. (Last author), 2022, In: GENES. 13, 12Research output: Contribution to journal › Case report › peer-review
2 Citations (Web of Science) -
2012
COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.
Strasser, K. (First author), Hoefele, J., Bergmann, C., Büscher, A. K., Büscher, R., Hoyer, P. F. & Weber, S., 2012, In: NEPHROLOGY DIALYSIS TRANSPLANTATION . 27, 11, p. 4236-4240Research output: Contribution to journal › Case report › peer-review