(Q28277325)

9

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Norio Niikawa

10

object named as

Norio Niikawa

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author name string

Noriko Miyake

1

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Seiji Mizuno

2

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Nobuhiko Okamoto

3

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Hirofumi Ohashi

4

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Masaaki Shiina

5

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Kazuhiro Ogata

6

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Mitsuko Nakashima

8

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Naomichi Matsumoto

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

11

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language of work or name

English

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publication date

January 2013

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published in

Human Mutation

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volume

34

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issue

1

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page(s)

108-10

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Three patients with ring (X) chromosomes and a severe phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

The UTX gene escapes X inactivation in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Kabuki make-up syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

Kabuki syndrome and sex chromosomal anomalies: is it really an association?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

inferred from DOI database lookup

7 January 2021

based on heuristic

A small and active ring X chromosome in a female with features of Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22229

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22229

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

23076834

1 reference

Consolidated OpenCitations Corpus – April 2017