Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant

por Jurk, Kerstin, Adenaeuer, Anke, Sollfrank, Stefanie, Groß, Kathrin, Häuser, Friederike, Czwalinna, Andreas, Erkel, Josef, Fritsch, Nele, Marandiuc, Dana, Schaller, Martin, Lackner, Karl J., Rossmann, Heidi, Bergmann, Frauke
Publicado 2022

Evaluation of a laboratory-based high-throughput SARS-CoV-2 antigen assay for non-COVID-19 patient screening at hospital admission

por Häuser, Friederike, Sprinzl, Martin F., Dreis, Kim J., Renzaho, Angelique, Youhanen, Simon, Kremer, Wolfgang M., Podlech, Jürgen, Galle, Peter R., Lackner, Karl J., Rossmann, Heidi, Lemmermann, Niels A.
Publicado 2021

A novel von Willebrand factor multimer ratio as marker of disease activity in thrombotic thrombocytopenic purpura

por Falter, Tanja, Rossmann, Heidi, de Waele, Laure, Dekimpe, Charlotte, von Auer, Charis, Müller-Calleja, Nadine, Häuser, Friederike, Degreif, Adriana, Marandiuc, Dana, Messmer, Xavier, Sprinzl, Martin, Lackner, Karl J., Jurk, Kerstin, Vanhoorelbeke, Karen, Lämmle, Bernhard
Publicado 2023

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

por Nuzhat, Nafisa, Van Schil, Kristof, Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R., Winter, Jennifer, Truong, Hanh M., Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise, Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M., Van Lint, Michel, Rossmann, Heidi, Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N., De Baere, Elfride, Bolz, Hanno J.
Publicado 2023