Author Search Results

1

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa

by Iglesias-Romero, Ana Belén

Published 2024

Other Authors: “...Lin, Siying...”
Access document

Article

2

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

by Malka, Samantha

Published 2024

Other Authors: “...Lin, Siying...”
Access document

Article

3

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

by Kaminska, Karolina

Published 2025

Other Authors: “...Lin, Siying...”
Access document

Article

Export CSV Export RIS