Associated Papers
Syndromic ciliopathy: a taiwanese single-center study.
Pan YW et al.
Bmc Medical Genomics, 2024
38671463 (PubMed )
Supplement: 12920_2024_1880_MOESM3_ESM.pdf
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM5_ESM.xlsx › In-silico_prediction_of_all_var
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S et al.
Journal of Medical Genetics, 2022
35764379 (PubMed )
Supplement: jmedgenet-2022-108476supp001.pdf
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
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