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You searched for: Author/Creator Fu, Shangyi

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1. A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree. Issue 5 (20th March 2019)

3. A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis. Issue 11 (30th August 2018)

4. Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant. Issue 3 (26th October 2018)

5. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. Issue 3 (29th November 2017)