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A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria2022 Scientific Reports article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sien Lequeue, Jessie Neuckermans, Ine Nulmans, Ulrich Schwaneberg, Tamara Vanhaecke, Joery De Kock
5citations -
Complex structural variation and nonsense variant in trans cause VPS50-related disorder2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
5citations -
Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Xingfan Huang, Jana Henck, Chengxiang Qiu, Varun K. A. Sreenivasan, Saranya Balachandran, Rose Yinghan Behncke, +27 more
5citations -
Loss of the parkinsonism‐associated protein FBXO7 in glutamatergic forebrain neurons in mice leads to abnormal motor behavior and synaptic defects2023 Journal of Neurochemistry article Medicine Parkinson's Disease Mechanisms and Treatments Open access
Sabitha Joseph, Siv Vingill, Ekrem Dere, Lars Tatenhorst, Anja Ronnenberg, Paul Lingor, +4 more
5citations -
Thermal expansion and temperature dependence of Raman modes in epitaxial layers of Ge and Ge1−xSnx2024 Physical Review Materials article Physics and Astronomy Semiconductor materials and interfaces Open access
Agnieszka Anna Corley‐Wiciak, Diana Ryzhak, Marvin Hartwig Zoellner, Costanza Lucia Manganelli, Omar Concepción, Oliver Skibitzki, +4 more
5citations -
Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization2022 Research and Practice in Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Marie‐Daniéla Dubois, Ivan Peyron, Olivier Pierre-Louis, Johalène Rabout, Pierre Boisseau, Annika de Jong, +8 more
5citations -
High-throughput magnetic co-doping and design of exchange interactions in topological insulators2024 Physical Review Materials article Physics and Astronomy Topological Materials and Phenomena Open access
Rubel Mozumder, Johannes Wasmer, David Antognini Silva, Stefan Blügel, Philipp Rüßmann
5citations -
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 -
Automated quantification of the pulmonary vasculature in pulmonary embolism and chronic thromboembolic pulmonary hypertension2023 Pulmonary Circulation article Medicine Pulmonary Hypertension Research and Treatments Open access
Gudula J.A.M. Boon, Marius Staring, Lisette F. van Dam, Lucia J.M. Kroft, Irene Hernandez Giron, Maarten K. Ninaber, +6 more
5citations -
Prevalence and early surgical outcome of congenital diaphragmatic hernia in the Netherlands: a population-based cohort study from the European Pediatric Surgical Audit2024 Archives of Disease in Childhood Fetal & Neonatal article Medicine Congenital Diaphragmatic Hernia Studies Open access
Nadine Maria Teunissen, H Daniels, Johannes Marco Schnater, Ivo de Blaauw, Rene M. H. Wijnen
5citations -
Geometry dependence of two-level-system noise and loss in a - Si C : H parallel-plate capacitors for superconducting microwave resonators2024 Physical Review Applied article Physics and Astronomy Superconducting and THz Device Technology Open access
Kevin Kouwenhoven, Gwen P.J. van Doorn, Bruno T. Buijtendorp, Steven A. H. de Rooij, Dimitry Lamers, David J. Thoen, +3 more
5citations -
Atomic‐Scale Insights into Nanoparticle Exsolution at Dislocations in Dislocation‐Engineered Catalysts2025 Advanced Materials article Materials Science Catalytic Processes in Materials Science Open access
Moritz Lukas Weber, Moritz Kindelmann, Dylan Jennings, Jan Hoelschke, Regina Dittmann, Joachim Mayer, +3 more
5citations -
Sigma Factors as Potential Targets to Enhance Recombinant Protein Expression2025 Biotechnology and Bioengineering article Biochemistry, Genetics and Molecular Biology Bacterial Genetics and Biotechnology Open access
Laura Pohlen, Emily García, Luz María Martínez, Noemí Flores, Jochen Büchs, Guillermo Gosset, +1 more
5citations