Hirschsprung's disease: dissecting complexity in a pathogenetic network (Q77947091)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955531%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Hirschsprung's disease: dissecting complexity in a pathogenetic network (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955531%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

main subject

Hirschsprung's disease

1 reference

Edward R B McCabe

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955531%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

language of work or name

English

0 references

publication date

1 April 2002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955531%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955531%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

359

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955531%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

issue

9313

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955531%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

1169-1170

1 reference

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Monogenic traits are not simple: lessons from phenylketonuria

9 December 2019

cites work

1 reference

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7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908249-1

7 January 2021

Modifier genes convert "simple" Mendelian disorders to complex traits

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908249-1

7 January 2021

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908249-1

7 January 2021

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908249-1

7 January 2021

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908249-1

7 January 2021

Heterozygosity: an expanding role in proteomics

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908249-1

7 January 2021

Hirschsprung's disease in a family with multiple endocrine neoplasia type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908249-1

7 January 2021

Multiple endocrine neoplasia type II B with symptoms suggesting Hirschsprung's disease: a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908249-1

7 January 2021

10.1016/S0140-6736(02)08249-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955531%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference