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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

Masoumeh Goleyjani Moghadam

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Case report Aug 2026

Expanding the molecular and clinical spectrum of POLR3A-related charcot–marie–tooth disease

The second description of POLR3A-related CMT is presented and the role of RNA polymerase III dysfunction in peripheral neuropathy is supported and the molecular and geographical spectrum of POLR3A-related neuropathy is expanded.

Masoumeh Goleyjani Moghadam, Ebrahim Shokouhian, M. Soveyzi et al. · 0 citations
Open access Jan 2026

Diagnostic Yield of Genome Sequencing in an Iranian Exome‐Negative Autosomal‐Recessive Intellectual Disability Cohort

In a challenging, ES‐negative ARID cohort, GS provided an additional ~5.3% diagnostic yield by uncovering a noncoding splice alteration and a large intragenic deletion and highlight significant interpretation challenges in noncoding regions.

Ebrahim Shokouhian, Masoumeh Moslemi, Masoumeh Goleyjani Moghadam et al. · 0 citations

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