Skip to content
Log in
Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

K. Kahrizi

h-index 48 View on Semantic Scholar

We have 3 of 256 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

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
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

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.