Search Results - Friederike Petzold

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  1. 1

    Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation by Friederike Petzold, Anette Bachmann, Carsten Bergmann, Udo Helmchen, Jan Halbritter

    Published in BMC Nephrology (2019-09-01)
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  2. 2

    Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies by Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valérie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun

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  3. 3

    Pathogenic PHIP Variants are Variably Associated With CAKUT by Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, Melissa Pauly, Georgia Vasileiou, Christin Findeisen, Antje Kampmeier, Alma Kuechler, André Reis, Eva Decker, Carsten Bergmann, Konrad Platzer, Velibor Tasic, Karin Michaela Kirschner, Shirlee Shril, Friedhelm Hildebrandt, Wendy K. Chung, Jan Halbritter

    Published in Kidney International Reports (2024-08-01)
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  4. 4

    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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