title: Exome diagnostics: already a reality?
authors.forename: Constantin
authors.initials: C
authors.lastname: Polychronakos
authors.forename: Ku Chee
authors.initials: KC
authors.lastname: Seng
mesh_terms: D001139:Arnold-Chiari Malformation / Q000235:genetics*; D059472:Exome; D005123:Eye / Q000473:pathology*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D009154:Mutation; D018901:Peroxisomal Disorders / Q000235:genetics*