(Q45342398)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

disability affecting intellectual abilities

29 February 2020

main subject

disability

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:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hadia Hijazi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Mustafa A. Salih

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Tariq Ahmad Masoodi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Fowzan S Alkuraya

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

4

Ranad Shaheen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Anas M Alazami

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Mohammed S Al-Dosari

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Amal Hashem

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Jawahir Y Mohamed

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Amal Kentab

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Ali Awaji

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

English

0 references

publication date

25 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

29 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

425-430

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

The epidemiology of mental retardation: challenges and opportunities in the new millennium

29 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Guidelines for molecular karyotyping in constitutional genetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Genomics, intellectual disability, and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

DMLE+: Bayesian linkage disequilibrium gene mapping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

An adenosine deaminase that generates inosine at the wobble position of tRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Compilation of tRNA sequences and sequences of tRNA genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Codon--anticodon pairing: the wobble hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Analysis of codon:anticodon interactions within the ribosome provides new insights into codon reading and the genetic code structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

RNA editing by adenosine deaminases generates RNA and protein diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101378

10.1136/JMEDGENET-2012-101378

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23620220%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference