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English
Carpenter-Waziri syndrome results from a mutation in XNP
scientific article published on 01 July 1999
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
title
Carpenter-Waziri syndrome results from a mutation in XNP
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
main subject
Carpenter-Waziri syndrome
1 reference
based on heuristic
inferred from title
author
Laurent Villard
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
author name string
F Abidi
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
C E Schwartz
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
N J Carpenter
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
M Fontés
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
M Curtis
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
publication date
1 July 1999
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
volume
85
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
page(s)
249-251
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
cites work
X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
X linked mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
Nonspecific X-linked mental retardation II: the frequency in British Columbia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
XLMR genes: Update 1998
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
XLMR genes: update 1990.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
On the gates of hell and a most unusual gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
XNP mutation in a large family with Juberg-Marsidi syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990730%2985%3A3%3C249%3A%3AAID-AJMG12%3E3.0.CO%3B2-U
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19990730)85:3<249::AID-AJMG12>3.0.CO;2-U
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
PubMed ID
10398237
1 reference
stated in
Europe PubMed Central
PubMed ID
10398237
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398237%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
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