Associated Papers
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden J et al.
Human Mutation, 2019
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Taylor RL et al.
Ophthalmology, 2017
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