Associated Papers
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
38927702 (PubMed )
Supplement: genes-15-00766-s001.zip › Tab._S3.xlsx › Foglio1
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_5.XLSX › Sheet1
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA et al.
Cold Spring Harbor Molecular Case Studies, 2020
32014858 (PubMed )
Supplement: supp_mcs.a004754_Supplemental_Material.pdf
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Zhao L et al.
Human Genetics, 2015
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