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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

L. Vissers

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Open access Aug 2026

Maturation-dependent splicing alterations constrain SYNGAP1 splice-switching therapy

Using neural differentiation of human induced pluripotent stem cells, it is shown that the A3SS transcript is abundant in neural progenitors, astrocytes, microglia and immature neurons, with minimal presence in mature neurons, implying that SSOs targeting A3SS might lack therapeutic efficacy to rescue the neuronal phen...

J. A. Kamp, K. N. Wijnant, N. Maas et al. · 0 citations
Open access Aug 2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

A high prevalence of rare (mainly de novo) genetic variants in individuals with severe and sporadic DLD is revealed, and extensive molecular overlap with other neurodevelopmental disorders is demonstrated.

Milou G. P. Kennis, Leenke van Haaften, K. van Hulst et al. · 0 citations
Open access Jul 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Downstream regulatory variants are a substantial cause of NKX2-1-RDs and diagnostic strategies should include this regulatory region and systematic structural variant detection, particularly when coding variants have been excluded.

Robin Wijngaard, Lucy Dougherty-de Miguel, G. Demidov et al. · 0 citations

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