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Browsing by Author Braunisch, Matthias C

Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)TypeМp-cat.
2022Delineation of the phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy - Alport syndrome and thin basement membrane nephropathyRiedhammer, 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
2024Exome Sequencing in a Cohort of Individuals with Microscopic Hematuria and Clinical Suspicion of Type-IV-Collagen-Related-NephropathyBittmann, Marina; Riedhammer, Korbinian Maria; Stajic, Natasa; Lungu, Adrian; Tasic, Velibor; Abazi, Emini Nora; Braunisch, Matthias C; Nushi, Stavileci Valbona; Paripovic, Aleksandra; Putnik, Jovana;
Comic, Jasmina; Hoefele, Julia;
Conference Paper
Mp. category will be shown later
2022Exome Sequencing in Individuals with Congenital Anomalies of the Kidney and Urinary Tract (Cakut): a Single-Center ExperienceComic, Jasmina; Riedhammer, Korbinian Maria; Tasic, Velibor; Putnik, Jovana; Abazi-Emini, Nora; Paripovic, Aleksandra; Stajic, Natasa; Nushi-Stavileci, Valbona; Braunisch, Matthias C; Hoefele, JuliaConference Paper
Mp. category will be shown later
2023Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experienceRiedhammer, 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
2022Genotype-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
2024Is 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
2024Phenotypic and genotypic spectrum of familial cases with congenital anomalies of the kidney and urinary tract (CAKUT)Schniedermeier, Timo; Goldammer, Stephanie; Tasic, Velibor; Vollhardt, Anne; Abazi, Emini Nora; Gessner, Michaela; Putnik, Jovana; Stavileci, Valbona; Mueller, Dominik; Specht, Sabine;
Stajic, Natasa; Braunisch, Matthias C; Riedhammer, Korbinian Maria; Weber, Stefanie; Hoefele, Julia;
Conference Paper
Mp. category will be shown later