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Browsing by Author Braunisch, Matthias C
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) | Type | М-cat. |
|---|---|---|---|---|
| 2022 | Delineation of the phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy - Alport syndrome and thin basement membrane nephropathy | Riedhammer, Korbinian Maria; Braunisch, Matthias C; Comic, Jasmina; Lungu, Adrian; Putnik, Jovana; Milosevski-Lomic, Gordana; Gessner, Michaela; Stajic, Natasa; Patzer, Ludwig; Emini, Nora;
Tasic, Velibor; Hoefele, Julia;
| Conference Paper | Mp. category will be shown later |
| 2023 | Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience | Riedhammer, Korbinian Maria; Comic, Jasmina; Tasic, Velibor; Putnik, Jovana; Abazi-Emini, Nora; Paripovic, Aleksandra; Stajic, Natasa; Meitinger, Thomas; Nushi-Stavileci, Valbona; Berutti, Riccardo;
Braunisch, Matthias C; Hoefele, Julia;
| Article | 21M21 |
| 2022 | Exome Sequencing in Individuals with Congenital Anomalies of the Kidney and Urinary Tract (Cakut): a Single-Center Experience | Comic, Jasmina; Riedhammer, Korbinian Maria; Tasic, Velibor; Putnik, Jovana; Abazi-Emini, Nora; Paripovic, Aleksandra; Stajic, Natasa; Nushi-Stavileci, Valbona; Braunisch, Matthias C; Hoefele, Julia | Conference Paper | Mp. category will be shown later |
| 2022 | Genotype-Phenotype Correlation in a Cohort of Individuals with Disease-Causing Variants in COL4A3/COL4A4 Associated with Type-Iv-Collagen-Related Nephropathy (Alport Syndrome and Thin Basement Membrane Nephropathy) | Simmendinger, Hannes; Riedhammer, Korbinian Maria; Tasic, Velibor; Putnik, Jovana; Abazi-emini, Nora; Stajic, Natasa; Weidenbusch, Marc; Patzer, Ludwig; Lungu, Adrian; Milosevski-Lomic, Gordana;
Braunisch, Matthias C; Guenthner, Roman; Comic, Jasmina; Hoefele, Julia;
| Conference Paper | Mp. category will be shown later |
| 2024 | Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4</i>? | Riedhammer, Korbinian M; Simmendinger, Hannes; Tasic, Velibor; Putnik, Jovana; Abazi-Emini, Nora; Stajic, Natasa; Berutti, Riccardo; Weidenbusch, Marc; Patzer, Ludwig; Lungu, Adrian;
Milosevski-Lomic, Gordana; Guenthner, Roman; Braunisch, Matthias C; Comic, Jasmina; Hoefele, Julia;
| Article | 22M22 |