Inventaire - your friends and communities are your best library - Inventaire

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

author

Ada Hamosh

published in: Human Mutation

date of publication: 2011-04-05

Cites articles 8

Date

Title

Authors

2010-11-01

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

Anne De Paepe, Fransiska Malfait, Philip Vlummens
2009-01-01

Elements of morphology: introduction.

Leslie G Biesecker, Raoul Hennekam
2008-10-23

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

Peter Robinson, Stefan Mundlos, Sebastian Köhler, Dominik Seelow, Sebastian Bauer, Denise Horn
2008-12-01

The IC3D classification of the corneal dystrophies

Tero Kivelä, Massimo Busin, Berthold Seitz, Gordon K. Klintworth, Anthony J Aldave
2007-10

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

Eugenio Mercuri, Martin Brockington, Francesco Muntoni, Cecilia Jimenez-Mallebrera, Haluk Topaloglu, Sue Brown, Kathryn North, Volker Straub
2007-03-08

Mendelian Inheritance in Man and its online version, OMIM
2005-10-01

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.
2005

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

Article - wd:Q34176492

Welcome to Inventaire

the library of your friends and communities

you are offline