Associated Papers
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Hamanaka K et al.
Npj Genomic Medicine, 2025
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.
Katagiri S et al.
Journal of Ophthalmology, 2014
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