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Homozygosity 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 GeneIntegrated genetic and physical map of the 1q31-->q31.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenesThe 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.ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticumClinical course of cone dystrophy caused by mutations in the RPGR gene.Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaStraylight as an Indicator for Cataract Extraction in Patients with Retinal DystrophyCLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIESThr-4-Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch familyAutosomal recessive bestrophinopathy: differential diagnosis and treatment options.Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.CRB1-associated retinal dystrophiesStargardt 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 GeneGenotype and phenotype of 101 Dutch patients with congenital stationary night blindness.Fuchs' heterochromic uveitis associated with retinitis pigmentosa in a father and sonDevelopment of refractive errors - what can we learn from inherited retinal dystrophies?Autosomal recessive retinitis pigmentosa with preserved para-arteriolar pigment epithelium. First report on familial occurrenceDefining inclusion criteria and endpoints for clinical trials
author
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L Ingeborgh van den Born
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Ingeborgh van den Born