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The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy
Published 2019-06-01Subjects: “…early‐onset retinal dystrophy…”
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Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
Published 2021-03-01Subjects: Get full text
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A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
Published 2023-07-01Subjects: Get full text
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