(Q41930034)

English

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

scientific article published on 7 June 2014

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 October 2017

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

0 references

Haploinsufficiency

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Asbjørn Holmgren

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Madeleine Fannemel

1

object named as

Madeleine Fannemel

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Tuva Barøy

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Olaug K Rødningen

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Trine M Haugsand

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Børre Hansen

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Doriana Misceo

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

publication date

7 June 2014

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

European Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

57

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

513-519

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911659%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

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