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Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

2021 . Buelow, Markus | Süßmuth, David | Smith, Laurie D. | Aryani, Omid | CASTIGLIONI, CLAUDIA | Stenzel, Werner | Bertini, Enrico | Schuelke, Markus | Knierim, Ellen

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

Human cytomegalovirus multiple-strain infections and viral population diversity in haematopoietic stem cell transplant recipients analysed by high-throughput sequencing

2021 . Dhingra, A. | Götting, J. | Varanasi, P. R. | Steinbrueck, L. | Camiolo, S. | Zischke, J. | Heim, A. | Schulz, T. F. | Götting, Jasper | Kay-Fedorov, P. C. | Davison, A. J. | Suárez, N. M. | Ganzenmueller, Tina

How the west was won: genetic reconstruction of rapid wolf recolonization into Germany’s anthropogenic landscapes

2021 . Jarausch, Anne | Harms, Verena | Kluth, Gesa | Reinhardt, Ilka | Nowak, Carsten

Red foxes harbor two genetically distinct, spatially separated Echinococcus multilocularis clusters in Brandenburg, Germany

2021 . Herzig, Mandy | Maksimov, Pavlo | Staubach, Christoph | Romig, Thomas | Knapp, Jenny | Gottstein, Bruno | Conraths, Franz

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

2021 . Kehrer-Sawatzki, Hildegard | Cooper, David N.

Association between genetic variants of the cholinergic system and postoperative delirium and cognitive dysfunction in elderly patients

2021 . Heinrich, Maria | Sieg, Miriam | Kruppa, Jochen | Nürnberg, Peter | Schreier, Peter H. | Heilmann-Heimbach, Stefanie | Hoffmann, Per | Nöthen, Markus M. | Janke, Jürgen | Pischon, Tobias | Slooter, Arjen J. C. | Winterer, Georg | Spies, Claudia D.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males