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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Aleksandr Jestin

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Open access Oct 2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Variant-level functional assays expand the phenotypic spectrum of IDUA-associated disease to include late-onset retinal-predominant or apparently isolated retinitis pigmentosa and indicate that residual enzyme activity likely contributes to systemic sparing, highlighting the value of integrated genomic, biochemical, an...

Si-Ying Lin, Seok-Ho Yu, Andrew C. Browning et al. · 0 citations
Open access Jul 2026

XXYLT1 and Mendelian Retinal Dystrophy

Findings support the need to include XXYLT1 in clinical IRD gene panels, one of the identified genes, as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts.

Minna Kraatari-Tiri, Hina Ishtiaq, J. Tyrmi et al. · 0 citations

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