CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
1 research outputs found
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
Author
A Gal
Apfelstedt-Sylla E.
+31Â more
Berson E.L.
Blacharski P.
Bunge S.
Cibis G.W.
Connell G.
Connell G.
Deutman A.F.
E Apfelstedt-Sylla
E Zrenner
Farrar G.J.
Fishman G.A.
Franceschetti A.
Franceschetti A.
Gass J.D.M.
Gruning G.
H Wedemann
Hawkins R.K.
K Ruther
Kajiwara K.
M Theischen
Massof R.W.
Meins M.
Nichols B.E.
retina diseases. In Krill A.E.Flecked
Stone E.M.
Travis G.H.
Travis G.H.
Watzke R.C.
Weleber R.G.
Wells J.
Yagasaki K.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref