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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

Inherited metabolic disorders (IMDs) are a heterogeneous group of rare diseases caused by genetic variants that disrupt key metabolic pathways. This retrospective study primarily aimed to characterize the molecular and genetic spectrum of IMD-related genes and assess the diagnostic yield of next-generation sequen...

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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