Results 251 to 260 of about 27,933,437 (394)

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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population. [PDF]

open access: yesAsian Pac J Cancer Prev
Lila K   +7 more
europepmc   +1 more source

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review. [PDF]

open access: yesJ Int Med Res, 2022
Kharel S   +5 more
europepmc   +1 more source

Localizing Microaneurysms in Fundus Images Through Singular Spectrum Analysis

open access: yesIEEE Transactions on Biomedical Engineering, 2017
Su Wang   +6 more
semanticscholar   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger   +16 more
wiley   +1 more source

The South Atlantic Dipole via multichannel singular spectrum analysis. [PDF]

open access: yesSci Rep
Manta G   +5 more
europepmc   +1 more source

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