Manage settings
MENU
About this site
In het Nederlands
Home
Researchers
Projects
Organisations
Outputs & Impact
Infrastructure
Contact
Research Explorer
Your browser does not support JavaScript or JavaScript is not enabled. Without JavaScript some functions of this webapplication may be disabled or cause error messages. To enable JavaScript, please consult the manual of your browser or contact your system administrator.
Project
European Training Program to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases
Information
Project Team
Organisations
Outputs & Impact
Publications & research data ( 1 )
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Karolina Kaminska
Francesca Cancellieri
Mathieu Quinodoz
Abigail R. Moye
Miriam Bauwens
Siying Lin
Lucas Janeschitz-Kriegl
Tamar Hayman
Pilar Barberán-MartÃnez
Regina Schlaeger
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2025
Activities ( 0 )
Results
Impact narratives ( 0 )
Patents ( 0 )