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The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
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Europe PubMed Central
PMC publication ID
3370266
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
title
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome
(English)
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stated in
Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
main subject
haploinsufficiency
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author
Geert Vandeweyer
series ordinal
1
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Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
Frank Kooy
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4
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Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
author name string
Nathalie Van der Aa
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2
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Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
Edwin Reyniers
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3
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PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
language of work or name
English
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publication date
17 May 2012
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Europe PubMed Central
PMC publication ID
3370266
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
published in
American Journal of Human Genetics
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stated in
Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
volume
90
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Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
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1 February 2020
issue
6
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Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
page(s)
1071-1078
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Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
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An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
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GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
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23 September 2018
Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.
1 reference
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Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
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The Williams syndrome cognitive profile
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22608712
retrieved
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based on heuristic
inferred from PubMed ID database lookup
Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22608712
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Health and social outcomes in adults with Williams syndrome: findings from cross-sectional and longitudinal cohorts
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22608712
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.AJHG.2012.04.020
1 reference
stated in
Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
PMC publication ID
3370266
1 reference
stated in
Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
PubMed publication ID
22608712
1 reference
stated in
Europe PubMed Central
PMC publication ID
3370266
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22608712%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 February 2020
ResearchGate publication ID
225048149
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