(Q85109795)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20880121%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

Two-hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20880121%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Two‐hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes (English)

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01530_1.X

22 July 2024

author name string

R. A. Kumar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20880121

22 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20880121

22 July 2024

publication date

29 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20880121%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

14 February 2020

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1399-0004.2010.01530_1.x

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20880121

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2010.01530_1.x

22 July 2024

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01530_1.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2010.01530_1.x

22 July 2024

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01530_1.X

22 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20880121%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20880121%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20880121%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

page(s)

517-519

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20880121%20AND%20SRC:MED&resulttype=core&format=json

Recurrent 16p11.2 microdeletions in autism

14 February 2020

cites work

1

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01530_1.X

Structural variation of chromosomes in autism spectrum disorder

22 July 2024

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01530_1.X

Association between microdeletion and microduplication at 16p11.2 and autism

22 July 2024

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01530_1.X

Microduplications of 16p11.2 are associated with schizophrenia

22 July 2024

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01530_1.X

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

22 July 2024

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01530_1.X

22 July 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20880121%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference