The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology
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Differential gene expression induced by insulin and insulin-like growth factor-II through the insulin receptor isoform ALight-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.A novel pathway for sequential transformation of 7-dehydrocholesterol and expression of the P450scc system in mammalian skinCytochrome P450scc-dependent metabolism of 7-dehydrocholesterol in placenta and epidermal keratinocytesNovel activities of CYP11A1 and their potential physiological significance.Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic.Synthesis and photo-conversion of androsta- and pregna-5,7-dienes to vitamin D3-like derivatives.Photo-conversion of two epimers (20R and 20S) of pregna-5,7-diene-3beta, 17alpha, 20-triol and their bioactivity in melanoma cells.The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Hypothesis: the role of sterols in autism spectrum disorder.Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry.Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.Transfer of maternal cholesterol to embryo and fetus in pregnant mice.Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome.Smith-Lemli-Opitz syndrome among Arabs.Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
P2860
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P2860
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@ast
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@en
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@nl
type
label
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@ast
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@en
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@nl
prefLabel
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@ast
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@en
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@nl
P2860
P1433
P1476
The Smith-Lemli-Opitz syndrome ...... bryogenesis, and dysmorphology
@en
P2093
M J Nowaczyk
P2860
P304
P356
10.1034/J.1399-0004.2001.590601.X
P407
P577
2001-06-01T00:00:00Z