Results 201 to 210 of about 440,167 (290)

Epidemiological investigation and risk factors analysis of Helicobacter pylori infection in children and teenagers in Hainan Province. [PDF]

open access: yesBMC Infect Dis
Huang Y   +21 more
europepmc   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

open access: yesAnnals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins   +104 more
wiley   +1 more source

A Growth Chart for KBG Syndrome

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Karen J. Low   +6 more
wiley   +1 more source

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

Auditory Hyperresponsivity in Chronic Back Pain: A Randomized Controlled Trial of Pain Reprocessing Therapy

open access: yesAnnals of Neurology, EarlyView.
Objective Heightened sensitivity to noxious stimulation is a hallmark of chronic pain. Emerging evidence suggests heightened unpleasantness to non‐noxious (eg, auditory) aversive stimulation also characterizes chronic pain, but its magnitude, neural mechanisms, and treatment modifiability remain unknown.
Alina E. C. Panzel   +4 more
wiley   +1 more source

Early warning model for depression and anxiety among adolescent students: an empirical study based on Guilin. [PDF]

open access: yesFront Public Health
Ma Q   +10 more
europepmc   +1 more source

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