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American Journal of Medical Genetics|June 24, 1998
New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemiaP F Giampietro, A D Auerbach, E R Elias, et al.American Journal of Medical Genetics|May 1, 1994
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patientM Irons, E R Elias, G S Tint, et al.AJR. American Journal of Roentgenology|September 11, 1991
Benign hemorrhagic adrenocortical macrocysts in Beckwith-Wiedemann syndromeR G McCauley, J B Beckwith, E R Elias, et al.The New England Journal of Medicine|January 13, 1994
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndromeG S Tint, M Irons, E R Elias, et al.The Journal of Urology|February 26, 1999
Renal findings on radiological followup of patients with Beckwith-Wiedemann syndromeJ G Borer, M Kaefer, C E Barnewolt, et al.Journal of Lipid Research|June 1, 1996
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndromeG Salen, S Shefer, A K Batta, et al.Human Molecular Genetics|May 18, 2000
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndromeH Yu, M H Lee, L Starck, et al.Neuroradiology|November 8, 2003
MRI and 1H MRS findings in Smith-Lemli-Opitz syndromeP A Caruso, T Y Poussaint, A A Tzika, et al.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.Pageof 3