Results 241 to 250 of about 256,860 (287)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han   +8 more
wiley   +1 more source

Transferability of a US claims-based machine learning model for ATTRwt-CM identification: a retrospective evaluation in a German setting. [PDF]

open access: yesSci Rep
Muratovic-Colic H   +16 more
europepmc   +1 more source

Validation of electronic health record-based International Society on Thrombosis and Haemostasis bleeding algorithms in a US health system. [PDF]

open access: yesRes Pract Thromb Haemost
An J   +10 more
europepmc   +1 more source

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