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Naslov Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? (Article)
Autori Riedhammer Korbinian Maria 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 
Info CLINICAL GENETICS, (2024), vol. 105 br. 4, str. 406-414
Projekat Deutsche Forschungsgemeinschaft; German Research Foundation (DFG); Technical University of Munich (TUM)
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati:
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Naslov Phenotypic Variability of Individuals with Cakut (Meeting Abstract)
Autori Kraljevic Bernard Riedhammer Korbinian Maria Tasic Velibor Abazi-Emini Nora Gessner Michaela Lange-Sperandio Baerbel Stavileci Valbona Putnik Jovana  Paripovic Aleksandra Stajic Natasa Comic Jasmina Hoefele Julia 
Info PEDIATRIC NEPHROLOGY, (2023), vol. 38 br. , Suppl. 2, str. S54-S55
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Naslov Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience (Article)
Autori 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 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2023), vol. 31 br. 6, str. 674-680
Projekat CAKUT/UTI/Bladder Dysfunction of the European Society for Paediatric Nephrology (ESPN); German Research Foundation (DFG); Technical University of Munich (TUM)
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Naslov Exome Sequencing in Individuals with Congenital Anomalies of the Kidney and Urinary Tract (Cakut): a Single-Center Experience (Meeting Abstract)
Autori Comic Jasmina Riedhammer Korbinian Maria Tasic Velibor Putnik Jovana  Abazi-Emini Nora Paripovic Aleksandra Stajic Natasa Nushi-Stavileci Valbona Braunisch Matthias C Hoefele Julia 
Info PEDIATRIC NEPHROLOGY, (2022), vol. 37 br. 11, str. 2889-2889
Ispravka Web of Science   Elečas   Rang časopisa   Citati: Web of Science  
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Naslov 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) (Meeting Abstract)
Autori 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 
Info PEDIATRIC NEPHROLOGY, (2022), vol. 37 br. 11, str. 2854-2854
Ispravka Web of Science   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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