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Autori: Braunisch Matthias C

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Naslov Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? (Article; Early Access)
Autori 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 
Info CLINICAL GENETICS, (2024), vol. br. , str. -
Projekat Deutsche Forschungsgemeinschaft; 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 (Article; Early Access)
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. br. , str. -
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  
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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