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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

C. Angelini

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Open access Aug 2026

Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis

This study identified the yeast ortholog of WDR45 and established a Saccharomyces cerevisiae-based functional complementation assay to assess the pathogenicity of WDR45 variants, establishing a simple, robust, and scalable yeast model that enables functional interpretation of WDR45 variants and improves molecular diagn...

Vincent Morin, C. Durand, C. Angelini et al. · 0 citations
Open access Jul 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

NFIC-related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of NFIC dosage supporting a mirror-syndrome model.

Nathalie Vanden Eynde, L. Hérissant, E. Landais et al. · 0 citations

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