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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

Mona Entezam

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Review Open access Sep 2026

A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome

Background Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by pleiotropic clinical manifestations including retinal degeneration, obesity, polydactyly, intellectual disability, renal abnormalities, and hypogenitalism. Significant genetic heterogeneity exists, with over 20 genes impli...

Sheyda Khalilian, Mohadeseh Fathi, Mona Entezam et al. · 0 citations
Case report Open access Aug 2026

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

A novel likely pathogenic variant in the LOXHD1 gene, c.3713dupA (p.Asp1238Glufs*10), was identified and enhances the comprehension of the genetic underpinnings of hearing loss and may aid in molecular diagnostics and genetic counseling for impacted families.

Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi et al. · 0 citations

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