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You searched for: Author/Creator Fishman, Gerald A

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1. Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease. Issue 14 (28th April 2021)

2. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Issue 10 (11th July 2013)

5. Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. Issue 6 (26th April 2017)

6. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population. Issue 7 (14th May 2010)

7. Pathognomonic macular ripples are revealed by polarized infrared retinal imaging. Issue 20 (October 2021)