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Publications by Sabine Weidensee

Ophthalmic Features of Retinitis Pigmentosa in Cohen Syndrome Caused by Pathogenic Variants in the VPS 13B Gene

Acta Ophthalmologica

English

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Ophthalmic Features of Cone-Rod Dystrophy Caused by Pathogenic Variants in the ALMS1 Gene

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Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N

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A Combined in Silico, in Vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

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Posterior Column Ataxia-Retinitis Pigmentosa Syndrome

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Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome

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Retinitis Pigmentosa, Hypertension, and Uraemia in Werner's Syndrome

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Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families

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Genetic Testing in Patients With Retinitis Pigmentosa: Features of Unsolved Cases

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Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome

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