(Q48738408)

15 February 2018

title

Considerations for a multiaxis nomenclature system for medical genetics. (English)

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15 February 2018

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Robin NH

1

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15 February 2018

Biesecker LG

series ordinal

2

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15 February 2018

language of work or name

English

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publication date

1 July 2001

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15 February 2018

published in

Genetics in Medicine

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15 February 2018

volume

3

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15 February 2018

issue

4

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15 February 2018

page(s)

290-293

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15 February 2018

https://scigraph.springernature.com/pub.10.1097/00125817-200107000-00004

exact match

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cites work

Lumping and splitting: molecular biology in the genetics clinic

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

Should syndromes be defined phenotypically or molecularly? Resolution of the dilemma

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

Molecular genetic advances in understanding craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

Craniosynostosis syndromes: from genes to premature fusion of skull bones

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

Genetic aspects of Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

21 January 2018

Strike three for GLI3.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

Genetic factors in aminoglycoside toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200107000-00004

10.1097/00125817-200107000-00004

21 January 2018

Identifiers

DOI

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15 February 2018

Dimensions Publication ID

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1 reference

15 February 2018