Items where Author is "Ghalamkari, S."

Article

(2025) Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights. American journal of medical genetics. Part A. e63915. ISSN 1552-4833 (Electronic) 1552-4825 (Linking)

(2024) Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes. Journal of Diabetes Investigation. pp. 1390-1402. ISSN 2040-1116

(2023) Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants. Molecular Genetics & Genomic Medicine. e2101. ISSN 2324-9269 (Electronic) 2324-9269 (Linking)

(2021) A novel carcinogenic PI3K alpha mutation suggesting the role of helical domain in transmitting nSH2 regulatory signals to kinase domain. Life Sciences. ISSN 0024-3205