(Q83878611)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16736028%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands (English)

1 reference

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28 January 2020

1 reference

7

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28 January 2020

author name string

Ralph J Florijn

1

1 reference

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28 January 2020

Willem Loves

2

1 reference

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28 January 2020

Liesbeth J J M Maillette de Buy Wenniger-Prick

3

1 reference

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28 January 2020

Marcel M A M Mannens

4

1 reference

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28 January 2020

Nel Tijmes

5

1 reference

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28 January 2020

Simon P Brooks

6

1 reference

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28 January 2020

Arthur A B Bergen

8

1 reference

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28 January 2020

publication date

31 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16736028%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

28 January 2020

published in

1 reference

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28 January 2020

volume

14

1 reference

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28 January 2020

issue

9

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28 January 2020

page(s)

986-990

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201671

28 January 2020

exact match

0 references

cites work

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

The Nance-Horan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

Nance-Horan syndrome: linkage analysis in a family from The Netherlands

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

Identification of the gene for Nance-Horan syndrome (NHS)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201671

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201671

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16736028%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference