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Current Opinion in Pediatrics|November 25, 2003
Human malformation syndromes due to inborn errors of cholesterol synthesisForbes D PorterThe Journal of Clinical Investigation|September 7, 2006
Cholesterol precursors and facial cleftingForbes D PorterEuropean Journal of Human Genetics : EJHG|February 21, 2008
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and managementForbes D PorterJournal of Lipid Research|October 9, 2010
Malformation syndromes caused by disorders of cholesterol synthesisForbes D Porter, Gail E HermanMolecular Genetics and Metabolism|January 27, 2005
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndromeLina S Correa-Cerro, Forbes D PorterAmerican Journal of Medical Genetics. Part A|December 14, 2007
Acute postnatal cataract formation in Smith-Lemli-Opitz syndromeHalima Goodwin, Brian P Brooks, Forbes D PorterAmerican Journal of Medical Genetics. Part A|December 17, 2009
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndromeElaine Tierney, Sandra K Conley, Halima Goodwin, et al.American Journal of Medical Genetics. Part A|July 17, 2010
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndromeGrace Koo, Sandra K Conley, Christopher A Wassif, et al.Biochemical and Biophysical Research Communications|May 9, 2006
Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndromeIsabelle Weinhofer, Markus Kunze, Herbert Stangl, et al.American Journal of Medical Genetics. Part A|September 13, 2024
Assessing Postnatal Mortality in Smith-Lemli-Opitz SyndromeAishwarya Selvaraman, Samar Rahhal, Simona Bianconi, et al.Pageof 20