Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

by Caroline Lekszas, Ombretta Foresti, Ishier Raote, Daniel Liedtke, Eva-Maria König, Indrajit Nanda, Barbara Vona, Peter De Coster, Rita Cauwels, Vivek Malhotra, Thomas Haaf
Published 2020-02-01

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder

by Oliver Andres, Eva-Maria König, Karina Althaus, Tamam Bakchoul, Peter Bugert, Stefan Eber, Ralf Knöfler, Erdmute Kunstmann, Georgi Manukjan, Oliver Meyer, Gabriele Strauß, Werner Streif, Thomas Thiele, Verena Wiegering, Eva Klopocki, Harald Schulze
Published 2018-10-01