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 Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 MutationsClinical characteristics and natural history of rho-associated retinitis pigmentosa.Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaX-linked RetinoschisisThe Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene
author
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Bart P Leroy