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Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lenili-Opitz syndrome (SLOS)
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Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
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Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice
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DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
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Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome
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Structure and alternative splicing of the rat 7-dehydrocholesterol reductase gene
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7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
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