(Q34176492)

31 July 2017

title

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). (English)

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31 July 2017

3

Ada Hamosh

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31 July 2017

Joanna Amberger

1

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31 July 2017

Carol Bocchini

series ordinal

2

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31 July 2017

publication date

5 April 2011

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31 July 2017

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31 July 2017

volume

32

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31 July 2017

issue

5

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31 July 2017

page(s)

564-567

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Elements of morphology: introduction.

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21466

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21466

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21466

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21466

Mendelian Inheritance in Man and its online version, OMIM

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21466

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21466

The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21466

The IC3D classification of the corneal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21466

21 January 2018

Identifiers

DOI

10.1002/HUMU.21466

1 reference

31 July 2017

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