Results 171 to 180 of about 160,342 (272)

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

Qualitative study exploring stakeholder perspectives on the use of early MRI in wrist injury pathways in the UK NHS. [PDF]

open access: yesBMJ Open
Dean BJF   +6 more
europepmc   +1 more source

GABAergic modulation of beta power enhances motor adaptation in frontotemporal lobar degeneration

open access: yesAlzheimer's &Dementia, EarlyView.
Abstract INTRODUCTION We examined how abnormal prefrontal neurophysiology and changes in gamma‐aminobutyric acid‐ergic (GABAergic) neurotransmission contribute to behavioral impairments in disorders associated with frontotemporal lobar degeneration (FTLD). METHODS We recorded magnetoencephalography during an adaptive visuomotor task from 11 people with
Laura E. Hughes   +11 more
wiley   +1 more source

Progress in research on osteoporosis secondary to SARS‐CoV‐2 infection

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This review explores the potential mechanisms, complications, risk factors, and future research directions related to osteoporosis secondary to SARS‐CoV‐2 infection. Key mechanisms include an imbalance between osteoclast and osteoblast activity driven by direct viral effects on bone, inflammation, hypoxia, dysregulation of noncoding RNAs, and metabolic
Jinlong Wang   +5 more
wiley   +1 more source

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