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Nicotinic acetylcholine receptor β2 subunit gene implicated in a systems-based candidate gene study of smoking cessation
Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease
Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates
PTHR1 mutations associated with Ollier disease result in receptor loss of function
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
ATP modulates PTEN subcellular localization in multiple cancer cell lines
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
Embryonic motor axon development in the severe SMA mouse
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia
A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice
Loss of polycystin-1 causes centrosome amplification and genomic instability
Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse
Polygenic determinants of severe hypertriglyceridemia
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