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English
Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
case report
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title
Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
author
Cristina Tufarelli
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Richard C Trembath
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
author name string
Kinning E
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Winship WS
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Aldred MA
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
language of work or name
English
0 references
publication date
1 December 2005
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
volume
42
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
issue
12
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
page(s)
e70
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
Identifiers
DOI
10.1136/JMG.2005.033829
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
PMC publication ID
1735964
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
PubMed publication ID
16326827
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735964
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16326827%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 January 2020
ResearchGate publication ID
7442144
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