Associated Papers
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.
Stephenson K et al.
Bmc Medical Genetics, 2018
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
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