Human haploinsufficiency — one for sorrow, two for joy (Q57813416)

From Wikidata

Jump to navigation Jump to search

article published in 1994

edit

Language	Label	Description	Also known as
English	Human haploinsufficiency — one for sorrow, two for joy	article published in 1994

Statements

instance of

scholarly article

0 references

title

Human haploinsufficiency — one for sorrow, two for joy (English)

0 references

main subject

Haploinsufficiency

0 references

author

Peter J Scambler

object named as

Peter Scambler

series ordinal

2

0 references

author name string

Elizabeth Fisher

series ordinal

1

0 references

language of work or name

English

0 references

publication date

May 1994

0 references

published in

Nature Genetics

0 references

volume

7

0 references

issue

1

0 references

page(s)

5-7

0 references

cites work

Positional cloning: let's not call it reverse anymore

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

DiGeorge syndrome: part of CATCH 22.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of the RET proto-oncogene in Hirschsprung's disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Turner syndrome: the case of the missing sex chromosome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Falling off the knife edge

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

The human protooncogene ret: a communicative cadherin?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

A Drosophila Minute gene encodes a ribosomal protein.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Dimerization and the control of transcription by Krüppel.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary disorders of the red cell membrane skeleton

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0594-5

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG0594-5

0 references

PubMed publication ID

8075640

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q57813416&oldid=2213638733"