(Q52124945)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Toshiki Takenouchi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Hiroshi Yoshihashi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Yuri Sakaguchi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Masataka Honda

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Kenjiro Kosaki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Sahoko Miyama

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

language of work or name

English

0 references

publication date

11 August 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

20 March 2020

number of pages

4

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

3249-3252

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

Molecular genetics of congenital nuclear cataract.

20 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

SWI/SNF complex prevents lineage reversion and induces temporal patterning in neural stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

Hirschsprung disease is linked to defects in neural crest stem cell function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

The ARID1B phenotype: what we have learned so far.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

Hirschsprung's disease: A bridge for science and surgery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

Genetic interactions and modifier genes in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37861

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37861

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27511161%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference