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Naturally occurring ACE2 stalk variants are differentially released from the cell2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Renin-Angiotensin System Studies Open access
Florian Wiersch, Christine Lux, Julia Vanderliek‐Kox, Katharina Schun, Andreas Ludwig, Stefan Düsterhöft
0citations -
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM92025 Human Genetics and Genomics Advances article Medicine Genetic factors in colorectal cancer Open access
Noah C. Helderman, Ting Yang, Claire Palles, Diantha Terlouw, Hailiang Mei, Ruben H.P. Vorderman, +34 more
1citations -
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants2023 The Lancet Diabetes & Endocrinology article Medicine Adrenal and Paraganglionic Tumors Open access
David Taïeb, George B. Wanna, Maleeha F. Ahmad, Charlotte Lussey‐Lepoutre, Nancy D. Perrier, Svenja Nölting, +37 more
92citations -
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects2020 Molecular Genetics and Metabolism Reports article Medicine Glycogen Storage Diseases and Myoclonus Open access
Marlen Görlacher, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca Dimitrov, Virginia Geiger, +6 more
8citations -
The severe von Willebrand disease variant p.M771V leads to impaired anterograde trafficking of von Willebrand factor in patient-derived and base-edited endothelial colony-forming cells2024 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Petra E. Bürgisser, Calvin B. van Kwawegen, Karin Fijnvandraat, Jeroen C.J. Eikenboom, Frank W.G. Leebeek, Jan Voorberg, +1 more
5citations -
Designing a diagnostic Total Testing Process as a base for supporting diagnostic stewardship2020 Clinical Chemistry and Laboratory Medicine (CCLM) article Medicine Clinical Laboratory Practices and Quality Control Open access
Christa M. Cobbaert, Arjan Albersen, Irna Zwiers, Pascal Schippers, Judith Gillis
6citations -
Discovery and Differential Processing of HLA Class II-Restricted Minor Histocompatibility Antigen LB-PIP4K2A-1S and Its Allelic Variant by Asparagine Endopeptidase
Anita Natalie Kremer, Judith Bausenwein, Ellie G.A. Lurvink, Andreas Emanuel Kremer, Caroline E. Rutten, Cornelis A.M. van Bergen, +8 more
10citations -
Correction: A rare missense variant impacting NEK1 kinase function is associated with ALS2026 Acta Neuropathologica Communications erratum Medicine Amyotrophic Lateral Sclerosis Research Open access
Dávid Brenner, Anna Ponomarenko, Iris Petrut, Sofia Beyrle, Matilde Contardo, Isabel Loss, +25 more
0citations -
Deep learning-based predictive modeling of PNPLA3 variant carriers using radiomics data from the UK Biobank2024 Zeitschrift für Gastroenterologie article Medicine Radiomics and Machine Learning in Medical Imaging
Yazhou Chen, Benjamin P. M. Laevens, Teresa Lemainque, Gustav Anton Müller‐Franzes, Daniel Truhn, Carolin Victoria Schneider
0citations