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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. Benarroch

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Open access Oct 2026

Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and neurodevelopmental features.

PURPOSE Marfan syndrome, Loeys-Dietz syndrome, and heritable thoracic aortic aneurysms and dissections (hTAAD) are autosomal dominant connective-tissue disorders with overlapping features and considerable genetic variability. Many cases arise from pathogenic variants affecting extracellular matrix (ECM) components or T...

Júlia Huguet Herrero, P. Arnaud, A. Bibimbou et al. · 0 citations
Review Aug 2026

Toward the clinical application of long-read sequencing in repeat-expansion disorders

This Perspective by the LRS-RED consortium discusses methodological, bioinformatic and diagnostic advances in long-read sequencing (LRS) for repeat-expansion disorders, highlighting the potential of LRS to reshape research and clinical practice.

L. Benarroch, J. Pešović, Marzia Rossato et al. · 0 citations

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