(Q24629790)

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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome (English)

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Jill Clayton-Smith

1

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object named as

Graeme Black

23

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Małgorzata Krajewska-Walasek

16

object named as

Malgorzata Krajewska-Walasek

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Leslie G Biesecker

9

object named as

Leslie G Biesecker

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17

object named as

Shane McKee

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Anne Kathrin Voss

1 reference

ORCID Public Data File 2021

author name string

James O'Sullivan

2

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Sarah Daly

3

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Sanjeev Bhaskar

4

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Ruth Day

5

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Beverley Anderson

6

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Anne K Voss

7

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Tim Thomas

8

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Philip Smith

10

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Alan Fryer

11

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Kate E Chandler

12

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Bronwyn Kerr

13

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May Tassabehji

14

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Sally-Ann Lynch

15

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Janine Smith

18

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Elizabeth Sweeney

19

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Sahar Mansour

20

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Shehla Mohammed

21

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Dian Donnai

22

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language of work or name

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publication date

11 November 2011

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American Journal of Human Genetics

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89

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5

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675-81

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MYST family histone acetyltransferases take center stage in stem cells and development.

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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

1 reference

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The transcriptional coactivator Querkopf controls adult neurogenesis.

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Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

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Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF

1 reference

https://pubmed.ncbi.nlm.nih.gov/22077973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficiency assessment of the gene trap approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/22077973

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based on heuristic

inferred from PubMed ID database lookup

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging

1 reference

https://pubmed.ncbi.nlm.nih.gov/22077973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2011.10.008

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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