Associated Papers
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.
Wang J et al.
Frontiers in Cell and Developmental Biology, 2021
33681214 (PubMed )
Supplement: Table_4.XLSX › Sheet1
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
Tayebi N et al.
Molecular Vision, 2019
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.
Zhang Q et al.
Scientific Reports, 2016
Select a paper to view details