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The phenotype associated with a large deletion on MECP2.
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Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
title
The phenotype associated with a large deletion on MECP2
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
main subject
phenotype
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inferred from title
author
Nadia Bahi-Buisson
series ordinal
6
1 reference
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Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
Helen Leonard
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7
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Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
Alan K. Percy
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3
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Alan Percy
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Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
Jenny Downs
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2
object named as
Jenny Downs
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Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
author name string
Ami Bebbington
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1
1 reference
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Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
Mercé Pineda
series ordinal
4
1 reference
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Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
Bruria Ben Zeev
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
publication date
4 April 2012
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Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
published in
European Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
volume
20
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
issue
9
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
page(s)
921-927
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
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The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population
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Recent advances in MeCP2 structure and function
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1 October 2017
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
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Seizures in Rett syndrome: an overview from a one-year calendar study
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Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period
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based on heuristic
inferred from PubMed ID database lookup
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22473088
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
MECP2 deletions and genotype-phenotype correlation in Rett syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22473088
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1038/EJHG.2012.34
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
PMC publication ID
3421119
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
PubMed publication ID
22473088
1 reference
stated in
Europe PubMed Central
PMC publication ID
3421119
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22473088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 January 2020
ResearchGate publication ID
223985593
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