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Next-generation diagnostics for inherited skin disorders
scientific article published on 01 October 2011
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
title
Next-generation diagnostics for inherited skin disorders
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
author
John Mcgrath
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
author name string
Joey E Lai-Cheong
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
language of work or name
English
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publication date
1 October 2011
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
published in
Journal of Investigative Dermatology
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stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
volume
131
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
issue
10
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
page(s)
1971-1973
1 reference
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Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
exact match
https://scigraph.springernature.com/pub.10.1038/jid.2011.253
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Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
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Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
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Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
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Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene
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Identifiers
DOI
10.1038/JID.2011.253
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
Dimensions Publication ID
1031900616
0 references
PubMed publication ID
21918571
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21918571
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21918571%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 February 2020
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