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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

D. Le Duc

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Open access Sep 2026

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

The findings suggest that LiCl may serve as a potential therapeutic strategy for patients with WDFY3 LoF variants and expand on the phenotype related to WDFY3 LoF and provide insights into the pathophysiology using in vitro human and murine neuronal models.

Moritz J. Paha, Arshi Mustafa, Lyvin Tat et al. · 0 citations
Open access Sep 2026

Established polygenic risk score for hypercholesterinemia demonstrates discriminatory value and risk stratification in an independent German Cohort

It is shown that the published hypercholesterolemia PRS (PGS000936) can effectively stratify risk and identify individuals with a high genetic burden in a real-world German clinical setting, supporting its clinical utility when appropriately calibrated for the local population.

L. Bundalian, A. Velluva, E. Gjermeni et al. · 0 citations
Open access Sep 2026

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

This case report supports the relevance of facial analysis and comprehensive variant validation strategies, particularly for deep intronic variants with ambiguous in silico splicing predictions, particularly for deep intronic variants with ambiguous in silico splicing predictions.

Z. Kowalzyk, J. Porrmann, P. Au et al. · 0 citations

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