Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Machado T et al.
Orphanet Journal of Rare Diseases, 2025
Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.
Valero R et al.
Genes, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Select a paper to view details