Autori: Hoefele Julia
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 |
Ispravka | Web of Science Elečas Rang časopisa |
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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 |
Ispravka | Web of Science Elečas Rang časopisa |
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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 |
Ispravka | Web of Science Elečas Rang časopisa |
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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) |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: |
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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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