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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2000 | 2 |
2001 | 2 |
2024 | 0 |
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5 results
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Page 1
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
Hum Mol Genet. 2001 Mar 15;10(6):555-64. doi: 10.1093/hmg/10.6.555.
Hum Mol Genet. 2001.
PMID: 11230174
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD.
Battaile KP, et al.
Mol Genet Metab. 2001 Jan;72(1):67-71. doi: 10.1006/mgme.2000.3103.
Mol Genet Metab. 2001.
PMID: 11161831
Item in Clipboard
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
Battaile KP, Steiner RD.
Battaile KP, et al.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):154-62. doi: 10.1006/mgme.2000.3020.
Mol Genet Metab. 2000.
PMID: 11001806
Review.
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Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production.
Steiner RD, Linck LM, Flavell DP, Lin DS, Connor WE.
Steiner RD, et al.
J Lipid Res. 2000 Sep;41(9):1437-47.
J Lipid Res. 2000.
PMID: 10974051
Free article.
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A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome.
Battaile KP, Maslen CL, Wassif CA, Krakowiak P, Porter FD, Steiner RD.
Battaile KP, et al.
Genet Test. 1999;3(4):361-3. doi: 10.1089/gte.1999.3.361.
Genet Test. 1999.
PMID: 10627944
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