Papers matching “functional interpretation” 1,027
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arélin, +64 more
25citations -
Hand Function Trajectories over time in Hand Osteoarthritis in relation to pain trajectories and loss to follow-up2025 Research Square preprint Health Professions Musculoskeletal pain and rehabilitation Open access
Anne Olde Meule, Yisha He, Coen van der Meulen, J. Runhaar, Frits Richard Rosendaal, M. Kloppenburg
0citations -
Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy2025 Developmental Medicine & Child Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Mary Chesshyre, Deborah A. Ridout, Valeria Ricotti, Silvana De Lucia, Erik Harmen Niks, Volker W. Straub, +6 more
3citations -
Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution2025 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Venda Mangkusaputra, A.G. Murachelli, Zhengzhou Yu, Roberta Menafra, Anne Schreuder, Susan L. Kloet, +2 more
7citations -
Investigating enzyme function by geometric matching of catalytic motifs2026 Protein Science article Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access
R. Hackett, Ioannis G. Riziotis, Martin F. Larralde, António J. M. Ribeiro, Georg Zeller, Janet M. Thornton
1citations -
Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Paulo C.M. Lyra, Samuel Brito, Michael J. Parsons, Chunling Hu, Thales C. Nepomuceno, Nam Phuong Nguyen, +31 more
0citations -
LOBSTER : Local orbital projections, atomic charges, and chemical‐bonding analysis from projector‐augmented‐wave‐based density‐functional theory2020 Journal of Computational Chemistry article Physics and Astronomy Advanced Chemical Physics Studies Open access
Ryky Nelson, Christina Ertural, Janine George, Volker L. Deringer, Geoffroy Hautier, Richard Dronskowski
1,585citations -
American Society of Neuroradiology Consensus Statement: Integrating Neuro-PET Interpretation into Neuroradiology Training and Practice2025 American Journal of Neuroradiology article Medicine Radiology practices and education Open access
Jana Ivanidze, Ana Marija Franceschi, Max Wintermark, John E. Jordan, Mariam Aboian, Reza Assadsangabi, +20 more
4citations -
Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, +15 more
3citations -
Functional genomics analysis identifies T and NK cell activation as a driver of epigenetic clock progression2022 Genome biology article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access cited by 1 patent
Thomas H. Jonkman, Koen F. Dekkers, Roderick C. Slieker, Crystal D. Grant, M. Arfan Ikram, Marleen M. J. van Greevenbroek, +5 more
71citations -
Understanding the Mid-Infrared Spectra of Protic Ionic Liquids by Density Functional Theory2024 The Journal of Physical Chemistry B article Chemical Engineering Ionic liquids properties and applications Open access
Yingzhen Chen, Christian Rodenbücher, Adrien Morice, Fabian P. Tipp, Piotr M. Kowalski, Carsten Korte
10citations