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The Journal of Clinical Investigation|October 1, 1995
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotesS Shefer, G Salen, A K Batta, et al.The Journal of Pediatrics|July 1, 1995
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndromeG S Tint, G Salen, A K Batta, et al.American Journal of Medical Genetics|January 31, 1997
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trialM Irons, E R Elias, D Abuelo, et al.Journal of the American College of Cardiology|April 1, 1987
Status of the myocardium and infarct-related coronary artery in 19 necropsy patients with acute recanalization using pharmacologic (streptokinase, r-tissue plasminogen activator), mechanical (percutaneous transluminal coronary angioplasty) or combined types of reperfusion therapyB F Waller, D A Rothbaum, C A Pinkerton, et al.Prenatal Diagnosis|August 26, 1998
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterolsG S Tint, D Abuelo, M Till, et al.American Journal of Medical Genetics|October 23, 1997
Skeletal anomalies and deformities in patients with deletions of 22q11J E Ming, D M McDonald-McGinn, T E Megerian, et al.American Journal of Medical Genetics. Part A|February 27, 2010
22q13.3 deletion syndrome: clinical and molecular analysis using array CGHS U Dhar, D del Gaudio, J R German, et al.Pageof 3