Results 211 to 220 of about 631,893 (306)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta   +10 more
wiley   +1 more source

Redesigning trials to be inclusive of people with a learning disability-a practical example. [PDF]

open access: yesTrials
Shepherd V   +9 more
europepmc   +1 more source

Dr. Hans Kohn and the political takeover of the Berlin Medical Society by the National Socialist regime in 1933

open access: yesThe Anatomical Record, EarlyView.
Abstract To solidify their power over society, totalitarian regimes will usually eliminate any dissent, any perceived threats early on. These threats include not only political enemies but also educated and independent segments of society, such as professional associations.
Michael Hortsch
wiley   +1 more source

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