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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2000 | 2 |
2001 | 1 |
2002 | 1 |
2007 | 1 |
2008 | 1 |
2024 | 0 |
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Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
J Inherit Metab Dis. 2000 Jun;23(4):409-12. doi: 10.1023/a:1005616321794.
J Inherit Metab Dis. 2000.
PMID: 10896306
No abstract available.
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
Witsch-Baumgartner M, Ciara E, Löffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G.
Witsch-Baumgartner M, et al.
Eur J Hum Genet. 2001 Jan;9(1):45-50. doi: 10.1038/sj.ejhg.5200579.
Eur J Hum Genet. 2001.
PMID: 11175299
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Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.
Patrono C, Dionisi-Vici C, Giannotti A, Bembi B, Digilio MC, Rizzo C, Purificato C, Martini C, Pierini R, Santorelli FM.
Patrono C, et al.
Mol Cell Probes. 2002 Aug;16(4):315-8. doi: 10.1006/mcpr.2002.0426.
Mol Cell Probes. 2002.
PMID: 12270273
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Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M.
Jezela-Stanek A, et al.
Eur J Med Genet. 2008 Mar-Apr;51(2):124-40. doi: 10.1016/j.ejmg.2007.11.004. Epub 2007 Dec 8.
Eur J Med Genet. 2008.
PMID: 18249054
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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.
Witsch-Baumgartner M, et al.
Am J Hum Genet. 2000 Feb;66(2):402-12. doi: 10.1086/302760.
Am J Hum Genet. 2000.
PMID: 10677299
Free PMC article.
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