(Q55053637)

English

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108393%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108393%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

3

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17 January 2020

6

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17 January 2020

Hans van Bokhoven

11

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17 January 2020

author name string

Nicole de Leeuw

1

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17 January 2020

Saskia Bulk

2

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17 January 2020

Lane Jaeckle-Santos

4

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17 January 2020

Linda A Baker

5

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17 January 2020

Tjitske Kleefstra

7

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17 January 2020

Jasper J van der Smagt

8

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17 January 2020

Angela Maria Vianne Morgante

9

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17 January 2020

Bert B A de Vries

10

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17 January 2020

Arjan P M de Brouwer

12

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17 January 2020

language of work or name

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publication date

1 December 2010

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17 January 2020

American Journal of Medical Genetics

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17 January 2020

152A

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17 January 2020

12

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17 January 2020

3084-3090

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17 January 2020

Identifiers

10.1002/AJMG.A.33743

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17 January 2020

1 reference

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17 January 2020

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