Results 41 to 50 of about 4,413 (218)
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Proposal to encode Old South Arabian Script [PDF]
, 2008 This is a proposal to encode the Old South Arabian script in the international character encoding standard Unicode. The script was published in Unicode Standard version 5.2 in October 2009.
Maktari, Sultan, Mansour, Kamal
core
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth +8 more
wiley +1 more source
The sociology of Theodor Adorno [PDF]
, 2011 Theodor Adorno is a widely-studied figure, but most often with regard to his work on cultural theory, philosophy and aesthetics. The Sociology of Theodor Adorno provides the first thorough English-language account of Adorno's sociological thinking ...
Benzer, Matthias
core
Arthritis Care &Research, EarlyView.Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink +3 more
wiley +1 more source
Open building and the role of craftsmanship in Ancient China: a historical literature interpretation of construction [PDF]
, 2009 The open building, although a new term of architecture that appeared at the end of the 20th century, is not a new concept as far as traditional and has allowed changes and improvements in structure space and function through generations.
Jia, B, Jiang, Y
core
What Do Large Language Models Know About Materials?
Advanced Engineering Materials, EarlyView.If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer +2 more
wiley +1 more source
Towards Defect Phase Diagrams: From Research Data Management to Automated Workflows
Advanced Engineering Materials, EarlyView.A research data management infrastructure is presented for the systematic integration of heterogeneous experimental and simulation data required for defect phase diagrams. The approach combines openBIS with a companion application for large‐object storage, automated metadata extraction, provenance tracking and federated data access, thereby supporting ...
Khalil Rejiba +5 more
wiley +1 more source
Tracing: A Graphical-Digital Method for Restoring Damaged Manuscripts [PDF]
, 2017 Different kinds of graphical properties of manuscripts such as layout, marginalia, handwriting or text decorations are crucial for the palaeographic and philological analysis thereof.
Rafiyenko, Dariya
core
Multimodal Data‐Driven Microstructure Characterization
Advanced Engineering Materials, EarlyView.A self‐consistent autonomous workflow for EBSP‐based microstructure segmentation by integrating PCA, GMM clustering, and cNMF with information‐theoretic parameter selection, requiring no user input. An optimal ROI size related to characteristic grain size is identified.
Qi Zhang +4 more
wiley +1 more source