Papers matching “complex structural variants” 31
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Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access
Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld
9citations -
Structural and functional analysis of the Mycobacterium tuberculosis MmpS5L5 efflux pump presages a pathway to increased bedaquiline resistance2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Tuberculosis Research and Epidemiology Open access
Adam J. Fountain, Jan Böhning, Stephen H. McLaughlin, Tomos E. Morgan, Paul H. Edelstein, Mark A. Troll, +4 more
4citations -
Structural and functional analysis of the Mycobacterium tuberculosis MmpS5L5 efflux pump presages increased bedaquiline resistance2025 Proceedings of the National Academy of Sciences article Medicine Tuberculosis Research and Epidemiology Open access
Adam J. Fountain, Jan Böhning, Stephen H. McLaughlin, Tomos E. Morgan, Paul H. Edelstein, Mark A. Troll, +4 more
7citations -
A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids2023 Alimentary Pharmacology & Therapeutics article Medicine Lipid metabolism and disorders Open access
Carolin Victoria Schneider, Leonida Hehl, Kate Townsend Creasy, Cecilia Vitali, Mara Sophie Vell, Marijana Vujković, +11 more
11citations -
A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells2026 Stem Cell Research & Therapy article Medicine Osteoarthritis Treatment and Mechanisms Open access
Zainab Harissa, Niek G.C. Bloks, Nancy S. Steward, Sara F. Tufa, Douglas R. Keene, Y.F. Ramos, +2 more
0citations -
Transseptal puncture in cardiovascular interventions: a clinical consensus statement of the European Heart Rhythm Association, the Heart Failure Association, the European Association of Percutaneous Cardiovascular Interventions, the European Association of Cardiovascular Imaging of the ESC, and the Association for European Paediatric and Congenital Cardiology
Isabel Deisenhofer, Magdy Abdelhamid, Marianna Adamo, Nina Ajmone Marsan, Nicolas Amabile, Caterina Bisceglia, +10 more
2citations -
Mechanisms of Podocyte Injury Due to Loss of the Nucleoporin NUP932025 Journal of the American Society of Nephrology article Medicine Renal Diseases and Glomerulopathies Open access
Hussein Bachir, Vanessa Krausel, Florian Buerger, Mohamed Hamed, Barbara Heitplatz, Veerle Van Marck, +11 more
1citations -
Affinity capillary electrophoresis – mass spectrometry permits direct binding assessment of IgG and FcγRIIa in a glycoform-resolved manner2022 Frontiers in Immunology article Medicine Monoclonal and Polyclonal Antibodies Research Open access
Christoph Gstöttner, Alexander Knaupp, Gestur Vidarsson, Dietmar Reusch, Tilman Schlothauer, Manfred Wuhrer, +1 more
16citations -
Pseudonaja textilis venom factor Va circumvents natural regulatory mechanisms via a unique A2 domain region2026 Journal of Thrombosis and Haemostasis article Medicine Blood Coagulation and Thrombosis Mechanisms Open access
Mark Schreuder, Ka Lei Cheung, Lynn Kruijsdijk, Pieter H. Reitsma, Mettine H.A. Bos
0citations -
Association between sacroiliac joint forms and subchondral changes in patients with Crohn's disease2024 International Journal of Rheumatic Diseases article Medicine Spondyloarthritis Studies and Treatments Open access
Oksana Melekh, Felix Barajas Ordonez, Bohdan Melekh, Pablo Rodríguez‐Feria, Maciej Pech, Wiebke Flintrop, +1 more
0citations -
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping2022 Alzheimer s Research & Therapy article Medicine Alzheimer's disease research and treatments Open access
Michaël E. Belloy, Sarah J. Eger, Yann Le Guen, Vincent Damotte, Shahzad Ahmad, M. Arfan Ikram, +22 more
23citations