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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
scientific article
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instance of
scholarly article
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title
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
(English)
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main subject
Kabuki syndrome
1 reference
based on heuristic
inferred from title
author
Jill Clayton-Smith
series ordinal
29
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Jay Shendure
series ordinal
35
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Siddharth Banka
object named as
Siddharth Banka
series ordinal
27
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Graeme Black
object named as
Graeme C Black
series ordinal
28
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Colleen A. Morris
series ordinal
26
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Deborah A Nickerson
series ordinal
30
object named as
Deborah A Nickerson
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Heather C. Mefford
series ordinal
10
object named as
Heather C Mefford
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Michael J Bamshad
series ordinal
36
object named as
Michael J Bamshad
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Abigail W Bigham
series ordinal
8
object named as
Abigail W Bigham
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Kati J Buckingham
series ordinal
2
object named as
Kati J Buckingham
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Mark C Hannibal
series ordinal
1
object named as
Mark C Hannibal
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Heidi I S Gildersleeve
series ordinal
7
object named as
Heidi I Gildersleeve
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Anita E Beck
series ordinal
5
object named as
Anita E Beck
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Holly K Tabor
series ordinal
9
object named as
Holly K Tabor
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Tohru Ohta
series ordinal
23
object named as
Tohru Ohta
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Norio Niikawa
series ordinal
34
object named as
Norio Niikawa
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author name string
Sarah B Ng
series ordinal
3
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Jeffrey E Ming
series ordinal
4
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Margaret J McMillin
series ordinal
6
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Joseph Cook
series ordinal
11
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Koh-ichiro Yoshiura
series ordinal
12
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Tadashi Matsumoto
series ordinal
13
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Naomichi Matsumoto
series ordinal
14
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Noriko Miyake
series ordinal
15
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Hidefumi Tonoki
series ordinal
16
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Kenji Naritomi
series ordinal
17
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Tadashi Kaname
series ordinal
18
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Toshiro Nagai
series ordinal
19
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Hirofumi Ohashi
series ordinal
20
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Kenji Kurosawa
series ordinal
21
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Jia-Woei Hou
series ordinal
22
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Deshung Liang
series ordinal
24
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Akira Sudo
series ordinal
25
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Elaine H Zackai
series ordinal
31
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Tamim H Shaikh
series ordinal
32
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Dian Donnai
series ordinal
33
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language of work or name
English
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publication date
July 2011
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published in
American Journal of Medical Genetics Part A
1 reference
stated in
PubMed
volume
155A
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issue
7
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page(s)
1511-6
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cites work
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
7 April 2017
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
7 April 2017
MLL2: A new mammalian member of the trx/MLL family of genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
7 April 2017
Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
7 April 2017
Chromatin modifications and their function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
7 April 2017
Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
27 September 2017
Kabuki syndrome: a review
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
27 September 2017
Haploinsufficiency of NSD1 causes Sotos syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
27 September 2017
A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
27 September 2017
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
27 September 2017
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121928
retrieved
27 September 2017
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FAJMG.A.34074
retrieved
21 January 2018
Identifiers
DOI
10.1002/AJMG.A.34074
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2417030
Fatcat ID
release_6xn2jjnl4nbc5ad4vzbivh64qy
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/6xn2jjnl4nbc5ad4vzbivh64qy
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
OpenCitations bibliographic resource ID
2417030
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2417030
PMC publication ID
3121928
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2417030
PubMed publication ID
21671394
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2417030
ResearchGate publication ID
51217463
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