Results 291 to 300 of about 120,317 (381)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2558-2568, December 2025.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu   +5 more
wiley   +1 more source

Advancements in Carbon‐Based Piezoelectric Materials: Mechanism, Classification, and Applications in Energy Science

open access: yesAdvanced Materials, Volume 37, Issue 48, December 3, 2025.
Carbon‐based piezoelectric materials are systematically categorized based on their structural and functional properties. The mechanisms of stress‐induced charge transfer are elucidated, and their applications are explored across three key domains: piezoelectric catalysis for energy conversion and environmental remediation, piezoelectric biomedical ...
Mude Zhu   +3 more
wiley   +1 more source

Carbamazepine-induced toxidermia: Case report and a literature review

open access: gold
R. Jbir   +9 more
openalex   +1 more source

Dual‐Function Piezo‐Photocatalytic Systems for Sustainable Hydrogen Evolution and Environmental Remediation

open access: yesAdvanced Science, Volume 12, Issue 46, December 11, 2025.
This article reviews dual‐function piezo‐photocatalytic systems that combine light and mechanical energy to produce hydrogen and clean the environment. It explains how various materials, including metal oxides, 2D structures, perovskites, and composites, enhance charge separation and reaction efficiency.
Nguyễn Hoàng Ly   +4 more
wiley   +1 more source

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid   +16 more
wiley   +1 more source

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