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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

J. Cobben

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Open access Jan 2026

Expanding the Progeroid Laminopathy Spectrum: Clinical Variability and Later‐Onset Phenotype in Homozygous LMNA c.1579C>T (p.Arg527Cys) Associated Mandibuloacral Dysplasia

Homozygous LMNA c.1579C>T p.(Arg527Cys) has previously been reported in seven families and is associated with a progeroid phenotype intermediate between Hutchinson–Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia type A (MAD‐A). Due to the limited number of reported cases, the complete phenotypic spectrum...

Eszter Sara Arany, D. Zocche, J. Cobben · 0 citations
Review Open access Aug 2026

Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.

It is demonstrated that YVS has a highly characteristic and recognizable phenotype, with digital abnormalities representing the most diagnostically valuable finding warranting FIG4 sequencing.

Edward Steel, J. Radley, J. Cobben · 0 citations

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