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A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
title
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
main subject
Noonan syndrome
1 reference
based on heuristic
inferred from title
neurofibromatosis type I
1 reference
based on heuristic
inferred from title
author
Ulrike Hüffmeier
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
Anita Rauch
series ordinal
5
object named as
Anita Rauch
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
author name string
Juliane Hoyer
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
Raimund Fahsold
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
Martin Zenker
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
language of work or name
English
0 references
publication date
1 December 2006
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
published in
American Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
volume
140
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
issue
24
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
page(s)
2749-2756
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
Identifiers
DOI
10.1002/AJMG.A.31547
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
PubMed publication ID
17103458
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17103458
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17103458%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
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