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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

Fabio Sirchia

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Open access Aug 2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

It is confirmed that male survival is possible with both mosaic and non‐mosaic PORCN variants and the role of residual protein function in clinical variability is highlighted, with important implications for diagnosis, genetic counseling, and management in families with apparently unaffected carrier mothers.

Lucía Miranda-Alcaraz, Simone Carbonera, M. Mora-Gómez et al. · 0 citations
Case report Open access Aug 2026

Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant

This case expands the clinical, immunological, and genetic spectrum of TRNT1-related disease and highlights that immune dysregulation may dominate the clinical course and SIFD should be considered in children presenting with sideroblastic anemia associated with recurrent unexplained inflammation, B-cell immunodeficienc...

Francesco Delle Cave, Ivan Taietti, Annalisa Agostini et al. · 0 citations

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