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

Get full text

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

Get full text