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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

M. I. Naseer

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Open access 2026

A Novel 5-bp c.433-1_436delGAGTA (p.Ser145Lysfs*9) Frameshift Deletion in C22orf31 Associated with Global Developmental Delay and Microcephaly in a Saudi Consanguineous Family

A novel 5-bp deletion in the C22orf31 gene is reported in a Saudi patient with developmental delays and seizures along with microcephaly, expanding the mutational and clinical spectrum of C22orf31 mutation-related neurodevelopmental disorders in Saudi Arabia.

Md. Safayet Hossain, O. Muthaffar, Angham Abdulrehman Abdulakreem et al. · 0 citations
Open access Aug 2026

Identification of a Novel homozygous Splice-Site Deletion in KCTD7 Gene Associated with Progressive Myoclonic Epilepsy

The particular phenotype that was observed in the patient is comparable to the ones that are described in the KCTD7 related pathologies, combined with segregation analysis indicating both parents carried the variant heterogeneously present is a strong indication that the identified mutation consists of probably pathoge...

S. Alharazy, Peter Natesan Pushparaj, Rose Jelani et al. · 0 citations

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