For clinicians and scientists

General websites

Genereviews

Mutation database

To enroll a patient in one of our studies, please contact us.

Pubmed (if you don't have access to a paper you wish have, you can email me, some PDFs can't be posted online depending on publisher)

Clinical

OMIM 

    DOORS syndrome 

    DFNA16 

    DFNB86 

    EIEE16 

    FIME 

Orphanet

Genetic testing registry