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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

Andrzej B. Poplawski

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2 papers indexed here

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Oct 2026

Genetic and functional analysis of CDH2 reveals new insights into CDH2-related disorders.

PURPOSE Pathogenic variants in CDH2 cause agenesis of the corpus callosum, cardiac, ocular, and genital syndrome (ACOGS). We aimed to define the clinical and molecular landscape of CDH2-related developmental disorders. METHODS Newly identified and previously reported families were analyzed for genotype-phenotype corr...

Linda M. Reis, Smith Ann M. Chisholm, Kailey Frank et al. · 0 citations
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

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