(Q50303174)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

disability affecting intellectual abilities

22 February 2020

main subject

autism

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Dorota Hoffman-Zacharska

7

object named as

D Hoffman-Zacharska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

A Charzewska

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

S Rzońca

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

M Janeczko

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

M Nawara

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

M Smyk

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

publication date

13 November 2014

1 reference

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22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

88

1 reference

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22 February 2020

issue

3

1 reference

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22 February 2020

page(s)

297-299

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

Fragile X and X-linked intellectual disability: four decades of discovery

22 February 2020

cites work

1 reference

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

21 January 2018

1 reference

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

21 January 2018

1 reference

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

21 January 2018

1 reference

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

21 January 2018

1 reference

Copy number variants, diseases and gene expression

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12528

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394356%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference