Results 171 to 180 of about 617,887 (285)

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón   +10 more
wiley   +1 more source

Continuous electrocardiogram monitoring in porcine model of myocardial ischemia reperfusion

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Wearable technology for continuous electrocardiogram monitoring can be utilized in porcine models of disease. Abstract As cardiovascular disease is the leading cause of global mortality, innovative animal models are vital to demonstrating the translational value of experimental discoveries. Investigations focused on myocardial remodeling after ischemia
Nathaniel Hyams   +8 more
wiley   +1 more source

An in vivo assay for osteoclast activity using mouse calvaria

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study describes a novel method for measuring osteoclast‐mediated bone resorption in vivo using a mouse model. Localized injection of RANKL in a basement membrane matrix above the cranium induced osteoclast‐mediated bone resorption. Utilizing micro‐computed tomography and a semiautomated three‐dimensional analysis program, osteoclast resorption pit
Christopher Grieg   +2 more
wiley   +1 more source

The current landscape and challenges facing international medical graduates in cardiothoracic surgery training. [PDF]

open access: yesJTCVS Open
McGovern KA   +10 more
europepmc   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

open access: yesAnnals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse   +16 more
wiley   +1 more source

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