Results 171 to 180 of about 144,700 (293)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

HnRNP C binding to inverted <i>Alu</i> elements protects the transcriptome from pre-mRNA circularization. [PDF]

open access: yesSci Adv
Marini A   +14 more
europepmc   +1 more source

RETRACTED: Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer

open access: yesInternational Journal of Cancer, EarlyView.
What's New? Using 21 SNPs, two novel PRS were constructed and used to develop two new machine‐learning classifiers, one for the detection of prostate cancer and the other for the prediction of its aggressiveness and subsequent mortality. The classifier for disease detection is built using the PRS as the sole feature, whereas the one for disease ...
Leandro Rodrigues Santiago   +3 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer   +11 more
wiley   +1 more source

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