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  • The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes
  • A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
  • Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
  • Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator
  • A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
  • Phenotypic continuum of NFU1-related disorders
  • The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
  • Genetic profiles of familial late-onset Alzheimer's disease in China: The Shanghai FLOAD study
  • Resolving primary pathomechanisms driving idiopathic-like spinal curvature using a new katnb1 scoliosis model
  • Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program