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English
Unusual presentation of Kelley-Seegmiller syndrome.
scientific article published in June 2008
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
title
Unusual presentation of Kelley-Seegmiller syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
author
Ivan Sebesta
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Blanka Stibůrková
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Lenka Dvořáková
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Martin Hrebicek
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Ivan Rychlík
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
author name string
J Minks
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
L Stolnaja
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Z Vernerova
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
publication date
1 June 2008
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
published in
Nucleosides, Nucleotides & Nucleic Acids
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
volume
27
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
issue
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
page(s)
648-655
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
cites work
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1080%2F15257770802143863
retrieved
21 January 2018
Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of human purine and pyrimidine metabolism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1080%2F15257770802143863
retrieved
21 January 2018
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1080%2F15257770802143863
retrieved
21 January 2018
Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1080%2F15257770802143863
retrieved
21 January 2018
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1080%2F15257770802143863
retrieved
21 January 2018
Recent advances in X-chromosome inactivation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1080%2F15257770802143863
retrieved
21 January 2018
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1080%2F15257770802143863
retrieved
21 January 2018
Identifiers
DOI
10.1080/15257770802143863
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Fatcat ID
release_ioe6ow7safbcjf3bcvzcqrihaa
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/ioe6ow7safbcjf3bcvzcqrihaa
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
PubMed publication ID
18600521
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18600521
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18600521%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
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