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agent
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneLONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATIONLong-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 MutationsClinical characteristics and natural history of rho-associated retinitis pigmentosa.Neovascular age-related macular degeneration without drusen in the fellow eyeCLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIESLoss of MAPK Pathway Activation in Post-Mitotic Retinal Cells as Mechanism in MEK Inhibition-Related Retinopathy in Cancer PatientsCharacterization and AAV-mediated CRB gene augmentation in human-derived CRB1KO and CRB1KOCRB2+/- retinal organoidsCRB1-associated retinal dystrophiesThe retinal pigmentation pathway in human albinismStargardt diseaseMacular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 GeneX-linked RetinoschisisThe Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneHuman iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoidsThe Lrat-/- RatGenotypic and Phenotypic Characteristics of CRB1-Associated Retinal DystrophiesQuality of life in patients with CRB1-associated retinal dystrophiesThe Role of Small Molecules and Their Effect on the Molecular Mechanisms of Early Retinal Organoid DevelopmentDefining inclusion criteria and endpoints for clinical trialsAAV Serotype Testing on Cultured Human Donor Retinal ExplantsRPGR-Associated DystrophiesOn the origin of proteins in human drusen
author
type
label
Camiel J F Boon
firstName
Camiel J F