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  • Lori Sullivan, Sara J. Bowne, +14 authors Stephen P. Daiger
  • Medicine, Biology
  • Investigative ophthalmology & visual science
  • 2006 (First Publication: 1 July 2006)
  • PURPOSE To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP. METHODS Two hundred adRP families, drawn from aExpand
  • Stuart K. Shapira, Christopher Mccaskill, +6 authors Lisa G Shaffer
  • Medicine, Biology
  • American journal of human genetics
  • 1997 (First Publication: 1 September 1997)
  • Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay,Expand