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Naslov Exome Sequencing in a Cohort of Individuals with Microscopic Hematuria and Clinical Suspicion of Type-IV-Collagen-Related-Nephropathy (Meeting Abstract)
Autori Bittmann 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 
Info PEDIATRIC NEPHROLOGY, (2024), vol. 39 br. 1, Suppl. S, str. S260-S260
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Naslov Phenotypic and genotypic spectrum of familial cases with congenital anomalies of the kidney and urinary tract (CAKUT) (Meeting Abstract)
Autori 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 
Info PEDIATRIC NEPHROLOGY, (2024), vol. 39 br. 1, Suppl. S, str. S11-S12
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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)
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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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Naslov Delineation of the phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy - Alport syndrome and thin basement membrane nephropathy (Meeting Abstract)
Autori 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 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 141-142
Ispravka Web of Science   Elečas   Rang časopisa   Citati: Web of Science  
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Naslov Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations (Letter)
Autori Hoskins Bethan E Cramer Carl HII Tasic Velibor Kehinde Elijah O Ashraf Shazia Bogdanovic Radovan M Hoefele Julia Pohl Martin Hildebrandt Friedhelm 
Info NEPHROLOGY DIALYSIS TRANSPLANTATION, (2008), vol. 23 br. 2 , Suppl. , str. 777 -779
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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