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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

A. Pechmann

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Review Open access Aug 2026

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome

Objective PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by generalized joint laxity, severe congenital hypotonia, progressive kyphoscoliosis, hyperextensible and easily bruised skin, ocular abnormalities, and significant vascular compli...

K. Vill, T. Brunet, M. Brugger et al. · 0 citations
Preprint Aug 2026

Large language models as synthetic clinical experts to inform longitudinal rare-disease modeling

Large language models are used as synthetic clinical experts to supervise a variational-autoencoder-based approach that learns low-dimensional latent summaries of visit-level observations to make clinical knowledge available to representation learning and improve clinical faithfulness for longitudinal rare-disease data...

Clemens Schächter, A. Pechmann, Janbernd Kirschner et al. · 0 citations

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