Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
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Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.
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Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
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Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
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The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions.
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Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
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Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
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"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
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Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations
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Two novel homozygous splicing mutations in ARL2BP cause autosomal recessive Retinitis Pigmentosa
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Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL. et al, (2019), Ophthalmology
Deletion of an Nrl-regulated alternative promoter results in retina-specific silencing of Frmpd1, a gene involved in mediating rod adaptation
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Expression of an opsin protein in developing starburst amacrine cells
Sekaran S. et al, (2018), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59
Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy.
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