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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

E. Verheyen

h-index 27 View on Semantic Scholar

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Oct 2026

Identification of novel CDK19 variants and Drosophila-based in vivo functional evidence supporting pathogenicity in neurodevelopmental disorders.

PURPOSE CDK19 (HGNC:19338) is a Mediator-associated kinase that regulates transcription during neurodevelopment. Although CDK19 variants have been linked to neurodevelopmental disorders, the full phenotypic spectrum and underlying pathogenic mechanisms remain incompletely defined. We aimed to further characterize clini...

Hyun Yong Koh, R. Sahu, Sung Dae Kim et al. · 0 citations
Open access Jun 2026

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes

This is the first study to show that the novel C-terminus of DVL1 is sufficient to interfere with the function of DVL1 protein expressed from the normal allele in heterozygous, autosomal dominant RS.

Shruti S. Tophkhane, G. Akarsu, S. Gignac et al. · 0 citations

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