Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome
about
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung diseaseRecent insights into the Smith-Lemli-Opitz syndrome.The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphologyMutations in the human DHCR7 gene.A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome.Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic featuresTeratogenesis of holoprosencephaly.Smith-Lemli-Opitz syndrome and the DHCR7 gene.Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouseAssays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patientsMutational spectrum of Smith-Lemli-Opitz syndrome.Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder.Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome.Simvastatin treatment in the SLO syndrome: a safe approach?Expression of smoothened in mouse embryonic maxillofacial development.Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.Smith-Lemli-Opitz syndrome among Arabs.Inherited disorders of cholesterol biosynthesis
P2860
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P2860
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@ast
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@en
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@nl
type
label
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@ast
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@en
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@nl
prefLabel
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@ast
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@en
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@nl
P2093
P356
P1476
Spectrum of Delta(7)-dehydroch ...... ith-Lemli-Opitz (RSH) syndrome
@en
P2093
P304
P356
10.1093/HMG/9.9.1385
P407
P577
2000-05-22T00:00:00Z