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Author

R. Badv

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Open access Oct 2026

Inherited metabolic disorder-related genes and mutation spectrum in Iranians: an 11-year analysis using next-generation sequencing and sanger sequencing

Findings have important implications for genetic counseling and early diagnosis, particularly in consanguineous populations, and considering treatable genes in this study could be valuable for inclusion in national screening panels and improve early clinical management.

Parnian Alagha, Negar Molaei, M. Beheshtian et al. · 0 citations
Open access Jan 2026

Identification of a Novel SLC18A2 Splicing Variant in a Case of Infantile Parkinsonism–Dystonia Type 2

The first genetically confirmed Iranian patient, an 18‐month‐old boy presenting with profound developmental delay, axial hypotonia, limb hypertonia, dystonia, oculogyric crises, ptosis, and autonomic dysfunction is reported, expanding the mutational spectrum of SLC18A2‐related disease and highlighting the importance of...

Ali Nikkhah, R. Badv, S. Habibi et al. · 0 citations

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