Whereas large-scale statistical analyses can robustly identify disease-gene relationships,
they do not accurately capture genotype-phenotype correlations or disease mechanisms. We …

Introduction Sixteen subjects with biallelic WARS2 variants encoding the tryptophanyl
mitochondrial aminoacyl-tRNA synthetase, presenting with a neonatal- or infantile-onset …

Objective Epilepsy is common in patients with PIGN diseases due to biallelic variants; however,
limited epilepsy phenotyping data have been reported. We describe the epileptology of …

Scapulothoracic dissociation, as manifested by lateral displacement of the scapula and
acromioclavicular separation, is a previously unreported injury in which there is a complete …

… ; triacylglycerols, 1.1 ± 0.7 mmol/L; total cholesterol, 5.5 ± 0.4 mmol/L. All the selected
subjects with central obesity had insulin resistance according to their homeostasis model …

Background: Asthma exacerbations represent the main source of costs and morbidity in
asthma care, and drugs specifically designed to prevent exacerbations are needed. A …

The composition of hemicelluloses differ considerably in extant hardwood and softwood. In
this study, we demonstrate that there are also significant differences between the …

Background: There is a lack of information and knowledge about the practical importance of
even low concentrations of the excretion of local anesthetics into breast milk, particularly …

… According to the standard dialysis procedure, the extracorporeal circuit was rinsed with 2 l
of heparinized saline (2500 IU/l). Almost all of this solution was discarded before the line was …

The beneficial metabolic effects of dietary soybean lecithin on lipid metabolism are now
more clearly established. The intestinal absorption of cholesterol is decreased by soybean …