Search Results - Julia Hoefele

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  1. 1

    Editorial: Genetics and epigenetics of chronic kidney disease by Julia Hoefele, Jia Rao, Jia Rao, Jia Rao, Andrew J. Mallett, Andrew J. Mallett, Andrew J. Mallett, Andrew J. Mallett

    Published in Frontiers in Medicine (2023-02-01)
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  2. 2

    Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data by Matthias Christoph Braunisch, Clara M. Großewinkelmann, Martin Menke, Nora Hannane, Riccardo Berutti, Jasmina Ćomić, Roman Günthner, Lutz Renders, Christoph Schmaderer, Uwe Heemann, Korbinian M. Riedhammer, Matias Wagner, Julia Hoefele

    Published in Kidney International Reports (2025-07-01)
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  3. 3

    The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience by Jasmina Ćomić, Jasmina Ćomić, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Roman Günthner, Christian W. Schaaf, Christian W. Schaaf, Patrick Richthammer, Hannes Simmendinger, Donald Kieffer, Riccardo Berutti, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajic, Adrian Lungu, Oliver Gross, Lutz Renders, Uwe Heemann, Matthias C. Braunisch, Thomas Meitinger, Julia Hoefele

    Published in Frontiers in Medicine (2022-08-01)
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  4. 4

    Trio Exome Sequencing in VACTERL Association by Jasmina Ćomić, Erik Tilch, Korbinian M. Riedhammer, Melanie Brugger, Theresa Brunet, Katharina Eyring, Katharina Vill, Silke Redler, Velibor Tasic, Eberhard Schmiedeke, Frank-Mattias Schäfer, Nora Abazi-Emini, Ekkehart Jenetzky, Nicole Schwarzer, Anke Widenmann, Martin Lacher, Michael Zech, Sabine Grasshoff-Derr, Michaela Geßner, Carmen Kabs, Barbara Seitz, Andreas C. Heydweiller, Oliver Muensterer, Bärbel Lange-Sperandio, Udo Rolle, Johannes Schumacher, Matthias C. Braunisch, Riccardo Berutti, Heiko Reutter, Julia Hoefele

    Published in Kidney International Reports (2025-03-01)
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  5. 5

    COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype by Bastian M. Krüger, Annika Jens, Anna Neuhaus, Jasmina Ćomić, Riccardo Berutti, Jonathan de Fallois, Friederike Petzold, Johannes Münch, Jan Kowald, Tom H. Lindner, Klemens Budde, Klara K. Brüning, Julia Thumfart, Jacob Haas, Carolin B. Brigl, Kerstin Amann, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajić, Evelyn Seelow, Charlotte Hammett, Kai-Uwe Eckardt, Korbinian M. Riedhammer, Eva V. Schrezenmeier, Julia Hoefele, Jan Halbritter

    Published in Kidney International Reports (2025-05-01)
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  6. 6

    IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. by Zeineb Bakey, Oscar A Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W Stuck, Dimitra Micha, Thibaut Eguether, Abigail O Smith, Nicole N van der Wel, Matias Wagner, Lara Strittmatter, Philip L Beales, Julie A Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Sharif, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecilia W Lo, Hannah M Mitchison, Miriam Schmidts, Gregory J Pazour

    Published in PLoS Genetics (2023-06-01)
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  7. 7

    Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age by Roman Günthner, Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Clara Hemmer, Matthias C. Braunisch, Matthias C. Braunisch, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Jasmina Ćomić, Jasmina Ćomić, Burkhard Tönshoff, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Karin Buiting, Nikola Gjorgjievski, Ana Momirovska, Ludwig Patzer, Martin Kirschstein, Oliver Gross, Adrian Lungu, Stefanie Weber, Lutz Renders, Uwe Heemann, Thomas Meitinger, Anja K. Büscher, Julia Hoefele

    Published in Frontiers in Medicine (2022-10-01)
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