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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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati:
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
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
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)
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati:
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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