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

Get full text

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

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