about
Autism and Metabolic DiseasesEstradiol stimulates vasodilatory and metabolic pathways in cultured human endothelial cells.Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndromeMutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome.Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.Engineering Yarrowia lipolytica for Campesterol Overproduction.Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.Mutational spectrum of Smith-Lemli-Opitz syndrome.Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Modulation of gene expression in MHCC97 cells by interferon alpha.Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects.A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis.Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism.Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder.Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.Expression Profile of Genes Regulating Steroid Biosynthesis and Metabolism in Human Ovarian Granulosa Cells-A Primary Culture Approach.
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին 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
Mutations in the human DHCR7 gene.
@ast
Mutations in the human DHCR7 gene.
@en
type
label
Mutations in the human DHCR7 gene.
@ast
Mutations in the human DHCR7 gene.
@en
prefLabel
Mutations in the human DHCR7 gene.
@ast
Mutations in the human DHCR7 gene.
@en
P2093
P2860
P356
P1433
P1476
Mutations in the human DHCR7 gene.
@en
P2093
Utermann G
Witsch-Baumgartner M
P2860
P304
P356
10.1002/HUMU.2
P577
2001-03-01T00:00:00Z