A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

por Fazeli, Walid, Kaczmarek, Sigrid, Kirschstein, Martin, Santer, René
Publicado 2015

Was ist gesichert in der Therapie von autoinflammatorischen Fiebererkrankungen?

por Pankow, Anne, Feist, Eugen, Baumann, Ulrich, Kirschstein, Martin, Burmester, Gerd-Rüdiger, Wagner, Annette Doris
Publicado 2021

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life

por Werfel, Lina, Martens, Helge, Hennies, Imke, Gjerstad, Ann Christin, Fröde, Kerstin, Altarescu, Gheona, Banerjee, Sushmita, Valenzuela Palafoll, Irene, Geffers, Robert, Kirschstein, Martin, Christians, Anne, Bjerre, Anna, Haffner, Dieter, Weber, Ruthild G.
Publicado 2023

Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis

por Klämbt, Verena, Gimpel, Charlotte, Bald, Martin, Gerken, Christopher, Billing, Heiko, Loos, Sebastian, Hansen, Matthias, König, Jens, Vinke, Tobias, Montoya, Carmen, Lange-Sperandio, Bärbel, Kirschstein, Martin, Hennies, Imke, Pohl, Martin, Häffner, Karsten
Publicado 2020

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age

por Günthner, Roman, Knipping, Lea, Jeruschke, Stefanie, Satanoskij, Robin, Lorenz-Depiereux, Bettina, Hemmer, Clara, Braunisch, Matthias C., Riedhammer, Korbinian M., Ćomić, Jasmina, Tönshoff, Burkhard, Tasic, Velibor, Abazi-Emini, Nora, Nushi-Stavileci, Valbona, Buiting, Karin, Gjorgjievski, Nikola, Momirovska, Ana, Patzer, Ludwig, Kirschstein, Martin, Gross, Oliver, Lungu, Adrian, Weber, Stefanie, Renders, Lutz, Heemann, Uwe, Meitinger, Thomas, Büscher, Anja K., Hoefele, Julia
Publicado 2022