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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals | Researchclopedia
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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals
2025
1 citations
Preprint
green Open Access
Ghent University Hospital
Sheetal Uppal
·
National Eye Institute
Eugenia Poliakov
·
National Eye Institute
Claire‐Marie Dhaenens
·
Inserm
Cheryl Y. Gregory‐Evans
·
University of British Columbia
Lies H. Hoefsloot
·
Erasmus University Rotterdam
Adriana I. Iglesias
·
Erasmus University Rotterdam
Susanne Kohl
·
STZ eyetrial
Theresia Zuleger
Tanguy Demaret
·
Institute of Pathology and Genetics
Sari Tuupanen
·
Blueprint Genetics (Finland)
Joke Ruys
·
Ghent University Hospital
Luc Van Os
·
Antwerp University Hospital
Elise Platteau
·
AZ Maria Middelares
Julie A. Jacob
·
Universitair Ziekenhuis Leuven
Sascha Vermeer
·
Universitair Ziekenhuis Leuven
Laurence Postelmans
·
Centre Hospitalier Universitaire Brugmann
Karin Dahan
·
Institute of Pathology and Genetics
Isabelle Maystadt
·
Institute of Pathology and Genetics
Florence Rasquin
·
Université Libre de Bruxelles
Alberta A. H. J. Thiadens
·
Erasmus University Rotterdam
Kirk Stephenson
·
University of British Columbia
Narin Sheri
·
University of Alberta
Vasily Smirnov
·
Centre National de la Recherche Scientifique
Ian M. MacDonald
·
University of Alberta
Kevin Gregory‐Evans
·
University of British Columbia
T. Michael Redmond
·
National Eye Institute
Julie De Zaeytijd
·
Ghent University Hospital
Bart P. Leroy
·
Children's Hospital of Philadelphia
Miriam Bauwens
·
Ghent University
Elfride De Baere
·
Ghent University