(Q34176492)

31 July 2017

title

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

1 reference

29 November 2024

3

Ada Hamosh

1 reference

31 July 2017

Joanna Amberger

1

1 reference

31 July 2017

Carol Bocchini

series ordinal

2

1 reference

31 July 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21472891

29 November 2024

publication date

5 April 2011

1 reference

full work available at URL

31 July 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.21466

1 reference

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21466/fullpdf

29 November 2024

1 reference

29 November 2024

1 reference

31 July 2017

volume

32

1 reference

31 July 2017

issue

5

1 reference

31 July 2017

page(s)

564-567

1 reference

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

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

21 January 2018

series ordinal

4

1 reference

29 November 2024

Identifiers

DOI

10.1002/HUMU.21466

1 reference

31 July 2017

1 reference