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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

Hanife Saat

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2 papers indexed here

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Case report Open access Oct 2026

Expanding the Genotypic and Phenotypic Spectrum of Li-Campeau Syndrome: A Homozygous Single-Exon Deletion in UBR7.

Biallelic pathogenic variants in UBR7, encoding ubiquitin protein ligase E3 component n-recognin 7, cause Li-Campeau syndrome (LICAS; OMIM #619189), which is characterized by developmental delay/intellectual disability, epilepsy, hypothyroidism, ptosis, genital anomalies, and cardiac anomalies. LICAS is an ultrarare di...

T. Duzenli, Damla Yıldız, G. Kayhan et al. · 0 citations
Review Sep 2026

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.

Clinical findings in patients with HCH were milder in individuals with serine substitution than in those with lysine substitution, consistent with this, and underscores genetic and clinical heterogeneity of HCH.

Abdülkerim Kolkıran, M. A. Kulalı, Tuğba Daşar et al. · 0 citations

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