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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.
Biological, clinical and population relevance of 95 loci for blood lipids.
Lessons for cardiac regeneration and repair through development.
Lipoprotein subfractions and cardiovascular disease risk.
Diffusion tensor imaging of Aicardi syndrome.
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy.
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Effects of congenital heart disease on brain development.