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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

S. Ceylaner

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Oct 2026

MOLECULAR AND CLINICAL FEATURES OF KYPHOSCOLIOTIC EHLERS-DANLOS SYNDROME DUE TO LYSYL HYDROXYLASE 1 DEFICIENCY.

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is caused by biallelic pathogenic variants in either PLOD1, encoding the enzyme lysyl hydroxylase 1 (LH1), which is crucial for collagen lysine hydroxylation and crosslink formation or in FKBP14, encoding the collagen chaperone FKBP22. This study aims to define the clinical...

D. Syx, M. Colman, Zoë Malfait et al. · 0 citations
Review Open access Sep 2026

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.

This series consolidates Lys198 as a recurrent hotspot across ethnically diverse cohorts, extends the structural-variant spectrum with the first Turkish CSNK2A1 contiguous-gene deletion, and supports adult-onset metabolic-reproductive complications as under-recognized OCNDS features.

Çağrı Doğan, A. Gezdirici, Hatice Özışık et al. · 0 citations

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