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English
Fraser syndrome due to homozygosity for a splice site mutation of FREM2
scientific article published on 01 February 2008
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
title
Fraser syndrome due to homozygosity for a splice site mutation of FREM2
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
main subject
Fraser syndrome
1 reference
based on heuristic
inferred from title
homozygosity
1 reference
based on heuristic
inferred from title
author
Martin Zenker
series ordinal
4
object named as
Martin Zenker
0 references
author name string
Yousef Shafeghati
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
Andrea Kniepert
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
Ghazal Vakili
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
Martin Zenker
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
language of work or name
English
0 references
publication date
1 February 2008
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
published in
American Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
volume
146A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
page(s)
529-531
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
Identifiers
DOI
10.1002/AJMG.A.32091
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
PubMed publication ID
18203166
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18203166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203166%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
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