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agent
Clinical, Genetic and Histopathological Characteristics of CRX-associated Retinal DystrophiesRetinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutationsThe Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONSThe Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneThe phenotypic spectrum of albinismLONG-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 MutationsPhysiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.Clinical characteristics and natural history of rho-associated retinitis pigmentosa.The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous AlbinismClinical course of cone dystrophy caused by mutations in the RPGR gene.CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIESAutosomal recessive bestrophinopathy: differential diagnosis and treatment options.GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.Ultrastructural localization of GPR179, and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.CRB1-associated retinal dystrophiesSimultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.X-linked RetinoschisisThe Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneNightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture.Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal DystrophiesCone-rod dystrophy can be a manifestation of Danon disease.Defining inclusion criteria and endpoints for clinical trialsRPGR-Associated Dystrophies
author
type
label
R.J. Florijn
firstName
lastName
name
employeeId
staffOrganisationAssociations
visibility
Public - No restriction
@en
Publiek - Geen beperking
@nl
relatedLink
title
dr. ir.
@en