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English
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis
scientific article published on 01 November 2000
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
title
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
main subject
Smith-Lemli-Opitz syndrome
1 reference
based on heuristic
inferred from title
author name string
V Bzdúch
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
L Kozák
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
H Francová
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
D Behúlová
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
publication date
1 November 2000
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
volume
95
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
page(s)
85
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
cites work
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C85%3A%3AAID-AJMG18%3E3.0.CO%3B2-9
retrieved
21 January 2018
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C85%3A%3AAID-AJMG18%3E3.0.CO%3B2-9
retrieved
21 January 2018
A gene for lymphedema-distichiasis maps to 16q24.3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C85%3A%3AAID-AJMG18%3E3.0.CO%3B2-9
retrieved
21 January 2018
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C85%3A%3AAID-AJMG18%3E3.0.CO%3B2-9
retrieved
21 January 2018
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820001106%2995%3A1%3C85%3A%3AAID-AJMG18%3E3.0.CO%3B2-9
retrieved
21 January 2018
Identifiers
DOI
10.1002/1096-8628(20001106)95:1<85::AID-AJMG18>3.0.CO;2-9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
PubMed publication ID
11074502
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11074502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11074502%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
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