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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.A homogenous frameshift mutation in LRAT causes retinitis punctata albescens.LONG-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 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 MutationsThe conclusions of Clemson et al. Concerning valproic acid are premature.Progressive loss of cones in Achromatopsia: an imaging study using spectral-domain optical coherence tomography.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Clinical characteristics and natural history of rho-associated retinitis pigmentosa.Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaCLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIESAutosomal recessive bestrophinopathy: differential diagnosis and treatment options.Expanded clinical spectrum of enhanced S-cone syndrome.CRB1-associated retinal dystrophiesSimultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.Stargardt diseaseHigh-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population.X-linked RetinoschisisThe Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneGenotypic and Phenotypic Characteristics of CRB1-Associated Retinal DystrophiesQuality of life in patients with CRB1-associated retinal dystrophiesDefining inclusion criteria and endpoints for clinical trialsRPGR-Associated Dystrophies
author
type
label
M.J. Van Schooneveld
firstName
lastName
Van Schooneveld
employeeId
workforce_id
staffOrganisationAssociations
visibility
Public - No restriction
@en
Publiek - Geen beperking
@nl