Papers matching “complex structural variants” 181
Not finding it? Sign in to also search OpenAlex live.
-
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Myrthe R. M. Kamphof, Bodo Laube, Gijs W.E. Santen, Hanna Swaab, +1 more
0citations -
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Acta Neuropathologica Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
0citations -
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
0citations -
Evolutionary Engineering of a Cp*Rh(III) Complex-Linked Artificial Metalloenzyme with a Chimeric β-Barrel Protein Scaffold2023 Journal of the American Chemical Society article Chemistry Cyclopropane Reaction Mechanisms Open access
Shunsuke Kato, Akira Onoda, Ulrich Schwaneberg, Takashi Hayashi
28citations -
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 Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, Heike Kölbel, David Muhmann, Ana Töpf, +10 more
1citations -
The Molecular Human – A Roadmap of Molecular Interactions Linking Multiomics Networks with Disease Endpoints2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Anna Halama, Shaza B. Zaghlool, Gaurav Thareja, Sara Abdul Kader, Wadha Al Muftha, Marjonneke J. Mook-Kanamori, +17 more
5citations -
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ramy Saad, Clementina Cobolli Gigli, Pleuntje J. van der Sluijs, Jon R. Wilson, Tzung‐Chien Hsieh, Vivienne P. M. McConnell, +20 more
0citations -
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease2025 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Miriam Elbracht, +14 more
3citations -
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 -
Fatigue crack strengthening in steel structures by adhesively bonded steel patches2024 International Journal of Adhesion and Adhesives article Engineering Fatigue and fracture mechanics Open access
Florian Ilg, Elisabeth Stammen, Björn Abeln, Christian Schüler, Klaus Dilger, Markus Feldmann
15citations -
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 -
DNA damage independent inhibition of NF-κB transcription by anthracyclines2022 eLife article Biochemistry, Genetics and Molecular Biology NF-κB Signaling Pathways Open access
Ângelo Ferreira Chora, Dora C. S. Pedroso, Eleni Kyriakou, Nadja Pejanovic, Henrique G. Colaço, Raffaella Gozzelino, +20 more
16citations -
The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific2026 JCI Insight article Biochemistry, Genetics and Molecular Biology Nuclear Structure and Function Open access
Sebastian Sewerin, Charlotte Aurnhammer, Mohamed Hamed, Gwladys Revêchon, Ria Anne-Rose Schönauer, Christin Findeisen, +26 more
0citations -
A Chemoenzymatic Strategy for Site-Specific Glyco-Tagging of Native Proteins for the Development of Biologicals2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Ana Gimeno, Anna M. Ehlers, Sandra Delgado, Jan-Willem H. Langenbach, Leendert J. van den Bos, John A. W. Kruijtzer, +2 more
0citations -
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 -
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan, +41 more
14citations