Mutational spectrum of Smith-Lemli-Opitz syndrome

ABCA1gene promoter DNA methylation is associated with HDL particle profile and coronary artery disease in familial hypercholesterolemia

(2012) Simon-Pierre Guay et al.   Epigenetics

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

New Driver for Lipid Synthesis

(2011) Sander M. Houten et al.   CELL

Smith-Lemli-Opitz syndrome among Arabs

(2011) M Al-Owain et al.   CLINICAL GENETICS

Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

(2011) Chloé Quélin et al.   European Journal of Medical Genetics

Smith–Lemli–Opitz syndrome

(2011) Andrea E. DeBarber et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome

(2010) Grace Koo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

(2010) David D. Weaver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome

(2009) Elaine Tierney et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement

(2009) Gabriella P. Szabó et al.   EUROPEAN JOURNAL OF PEDIATRICS

A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

(2009) Jae Sung Ko et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature

(2007) A. Jezela-Stanek et al.   European Journal of Medical Genetics