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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

Luisa Zupin

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2 papers indexed here

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Open access Oct 2026

Impaired Mitochondrial Translation and Bioenergetic Dysfunction Associated with the MT-RNR1 m.1014A>G Variant

Pathogenic variants in MT-RNR1 are classically associated with aminoglycoside-induced sensorineural hearing loss through disruption of the mitochondrial 12S rRNA decoding center. Their contribution to pediatric neurological disease remains poorly defined. We identified a novel homoplasmic MT-RNR1 variant, m.1014A>G, in...

Irene Marrone, Blendi Ura, F. Celsi et al. · 0 citations
Review Sep 2026

The Clinical and Genetic Landscape of Junctional Skin Disorder in Children: A Scoping Review.

Cellular junctions, including desmosomes, hemidesmosomes, adherens, tight, and gap junctions, are essential for epidermal integrity, barrier function, and cell signaling. Variants in genes encoding proteins involved in cellular junctions lead to a spectrum of skin disorders, commonly referred to as junctional genoderma...

Cecilia Del Vecchio, E. Nardacchione, Luisa Zupin et al. · 0 citations

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