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Found 15 publications

A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.

Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study.

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

Usher Syndrome: Genetics of a Human Ciliopathy.

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Unusual Presentation of Presumed Arteritic Ischemic Optic Neuropathy in Waxy Pale Disc of Retinitis Pigmentosa.

Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.

Variation analysis of genes associated with Usher syndrome type 1 in 136 Chinese deafness families.

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Mutation analysis and prenatal diagnosis of MYO7A gene in a case of Usher syndrome type 1.

Zebrafish Models of Photoreceptor Dysfunction and Degeneration.

Showing 1-12 of 15