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1 s approaching those seen in a mouse model of Smith-Lemli-Opitz syndrome.
2 al inherited metabolic disorders such as the Smith-Lemli-Opitz syndrome.
3 evelopmental delay found in individuals with Smith-Lemli-Opitz syndrome.
4 o synthesize cholesterol, such as those with Smith-Lemli-Opitz syndrome.
5 s to the devastating developmental disorder, Smith-Lemli-Opitz syndrome.
6 7-dehydrocholesterol (7-DHC), accumulates in Smith-Lemli-Opitz syndrome, a human genetic disease that
7 athogenesis of the cleft palate component of Smith-Lemli-Opitz syndrome and other human malformation
8 the Arabidopsis dwf5 phenotype and the human Smith-Lemli-Opitz syndrome are caused by loss-of-functio
9  derived from 7-DHC that also accumulates in Smith-Lemli-Opitz syndrome, blocked Hedgehog signaling b
10 up of human malformation syndromes including Smith-Lemli-Opitz syndrome, desmosterolosis, CHILD syndr
11 olesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic me
12 rocholesterol in the plasma of children with Smith-Lemli-Opitz syndrome imply that intermediates in c
13                                          The Smith-Lemli-Opitz syndrome is a common inherited birth d
14 ause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterol
15 te the low DHCR7 expression seen with common Smith-Lemli-Opitz syndrome mutations.
16                                      The RSH/Smith--Lemli--Opitz syndrome (RSH/SLOS) is a human autos
17                                Patients with Smith-Lemli-Opitz syndrome (SLOS) are born with multiple
18 ce to an inborn error of metabolism known as Smith-Lemli-Opitz syndrome (SLOS) caused by defective ch
19                                              Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-
20                                              Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome
21                                              Smith-Lemli-Opitz syndrome (SLOS) is a malformation diso
22                                              Smith-Lemli-Opitz syndrome (SLOS) is a malformation synd
23                                              Smith-Lemli-Opitz syndrome (SLOS) is a rare disorder of
24                                              Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal r
25                                          The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recess
26                                              Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of
27                                              Smith-Lemli-Opitz syndrome (SLOS) is caused by defects i
28 e verified in human fibroblasts derived from Smith-Lemli-Opitz syndrome (SLOS) patients and linked to
29                                              Smith-Lemli-Opitz syndrome (SLOS), desmosterolosis and l
30 ctase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in a deficien
31 ydrocholesterol reductase is associated with Smith-Lemli-Opitz syndrome (SLOS), the potent and select
32 7-dehydrocholesterol reductase (DHCR7) cause Smith-Lemli-Opitz Syndrome (SLOS), which is characterize
33  delta7-reductase gene (Dhcr7-/-) results in Smith-Lemli-Opitz syndrome (SLOS).
34 initially was clinically diagnosed as having Smith-Lemli-Opitz syndrome (SLOS).
35                                          The Smith-Lemli-Opitz syndrome (SLOS; also known as "RSH syn
36                                          The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH
37 erol, a sterol present in elevated levels in Smith-Lemli-Opitz syndrome, were both significantly more
38 st common cholesterol biosynthetic disorder, Smith-Lemli-Opitz syndrome, whose underlying defect was
39  play important roles in the pathogenesis of Smith-Lemli-Opitz syndrome, X-linked dominant chondrodys