1999
Prenatal diagnosis of ornithine transcarbamylase deficiency
Bale A. Prenatal diagnosis of ornithine transcarbamylase deficiency. Prenatal Diagnosis 1999, 19: 1052-1054. PMID: 10589058, DOI: 10.1002/(sici)1097-0223(199911)19:11<1052::aid-pd693>3.0.co;2-2.Peer-Reviewed Original ResearchPrenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G
Topaloglu A, Sansaricq C, Fox J, Bale A, Tuchman M, Desnick R. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal Of Inherited Metabolic Disease 1999, 22: 82-83. PMID: 10070622, DOI: 10.1023/a:1005411601985.Peer-Reviewed Original Research
1991
Predictive testing for Wilson's disease using tightly linked and flanking DNA markers.
Farrer L, Bowcock A, Hebert J, Bonne-Tamir B, Sternlieb I, Giagheddu M, George-Hyslop P, Frydman M, Lossner J, Demelia L, Carcassi C, Lee R, Beker R, Bale A, Donis-Keller H, Scheinberg I, Cavalli-Sforza L. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 1991, 41: 992-9. PMID: 2067662, DOI: 10.1212/wnl.41.7.992.Peer-Reviewed Original Research