Results 181 to 190 of about 4,480 (201)

DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model

Neurobiology of Disease, 2012
Libin Xu, Karoly Mirnics, Aaron B. Bowman   +2 more
exaly  

Mutational spectrum of Smith–Lemli–Opitz syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2012
Hans R Waterham
exaly  

Smith‐Lemli‐Opitz (RSH) syndrome bibliography

American Journal of Medical Genetics, 1987
J M, Opitz, V B, Penchaszadeh, M C, Holt, L M, Spano   +3 more
openaire   +2 more sources

Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome

Expert Opinion on Orphan Drugs, 2015
Christopher A Wassif, Forbes D Porter
exaly  

Nosology of Smith‐Lemli‐Opitz syndrome

American Journal of Medical Genetics, 1987
Elizabeth Thompson, Michael Baraitser, John M. Opitz   +2 more
openaire   +2 more sources

Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome

Nature Medicine, 2016
Zhexing Wen, Guo-Li Ming
exaly  

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

American Journal of Human Genetics, 1998
Hans R Waterham, Bwee Tien Poll-The, Jan Am Smeitink   +2 more
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Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

New England Journal of Medicine, 1994
exaly  

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

American Journal of Human Genetics, 1998
Christopher A Wassif, Robert D Steiner, Forbes D Porter   +2 more
exaly  

Smith-Lemli-Opitz Syndrome

2018
Adetola F. Louis-Jacques, Anthony O. Odibo, Rachael J. Bradshaw   +2 more
openaire   +1 more source