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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

Theodora Markati

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Open access Sep 2026

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome

ReNU syndrome is a severe neurodevelopmental disorder caused by de novo variants in the spliceosomal small nuclear RNA (snRNA) gene RNU4-2. Pathogenic variants cluster in two distinct structural regions of the U4 snRNA produced by RNU4-2, the T-loop and Stem III. Aberrant 5' splice site selection is a molecular hallmar...

R. Dawes, A. Blakes, T. Markati et al. · 0 citations
Jul 2026

Emerging Therapies for Angelman Syndrome.

An early-intervention approach, or combination of approaches, holds significant promise for transforming the lives of individuals affected by AS with outcomes dependent on their age or genotype.

C. Tychon, Theodora Markati, Serpil Alkan et al. · 0 citations

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