Tehran University of Medical Sciences

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Faculty Members have conducted research related to the De Novo Mutation in Cacna1s Gene in a 20-Year-Old Man Diagnosed With Metabolic Myopathy
Seyed Mohammad Akrami
Seyed Mohammad Akrami

Professor of Medical Genetics

Department Medical Genetics

School of Medicine

Tehran University of Medical Sciences

All Documents
1. The Immunopathological Landscape of Human Pre-Tcra Deficiency: From Rare to Common Variants, Science (2024)
2. The Immunopathological Landscape of Human Pre-Tcra Deficiency: From Rare to Common Variants, Science (2024)
3. Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies, European Journal of Human Genetics (2024)
4. Regulatory Role of Insulin on Endogenous L1 Orf1 and Nefm Gene Expression Through Pi3k Signaling Pathway Specifically in Neuroblastoma Cell Line, Iranian Journal of Public Health (2023)
5. The Challenges in the Interpretation of Genetic Variants Detected by Genomics Techniques in Patients With Congenital Anomalies, Journal of Clinical Laboratory Analysis (2023)
6. Circular Rnas in Renal Cell Carcinoma: Functions in Tumorigenesis and Diagnostic and Prognostic Potentials, Pathology Research and Practice (2022)
7. Evaluation of Epidermal Growth Factor Receptor Gene Mutations in an Iranian Population With Non-Small Cell Lung Carcinoma, Iranian Journal of Public Health (2022)
8. Exploring the Genetic Etiology of Drug-Resistant Epilepsy: Incorporation of Exome Sequencing Into Practice, Acta Neurologica Belgica (2022)
9. Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients, Journal of Clinical Immunology (2022)
10. Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients, Immunological Investigations (2021)
11. Overexpression of Hprt1 Is Associated With Poor Prognosis in Head and Neck Squamous Cell Carcinoma, FEBS Open Bio (2021)
12. The Spectrum of Atm Gene Mutations in Iranian Patients With Ataxia-Telangiectasia, Pediatric Allergy and Immunology (2021)
13. Plasma 5-Mirna As Biomarkers for Identifying Prostate Cancer Patients, Iranian Journal of Public Health (2019)
14. Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation, Sultan Qaboos University Medical Journal (2018)
15. Inflammation, a Significant Player of Ataxia–Telangiectasia Pathogenesis?, Inflammation Research (2018)
16. Mitochondrial Variants in Pompe Disease: A Comparison Between Classic and Non-Classic Forms, Cell Journal (2018)
17. Ataxia Telangiectasia Syndrome: Moonlighting Atm, Expert Review of Clinical Immunology (2017)
18. Association Study of Rs2228570 Snp of the Vdr Gene With Spermatogenesis Disorders in Infertile Men in Iranian Population, Tehran University Medical Journal (2016)
19. Deregulation of Mir-1, Mir486, and Let-7A in Cytogenetically Normal Acute Myeloid Leukemia: Association With Npm1 and Flt3 Mutation and Clinical Characteristics, Tumor Biology (2016)
20. Mitochondrial Copy Number and D-Loop Variants in Pompe Patients, Cell Journal (2016)
21. Phospho-Smc1 In-Cell Elisa Based Detection of Ataxia Telangiectasia, International Journal of Pediatrics (2016)
22. The Effect of Lactobacillus Crispatus and Lactobacillus Rhamnosus Culture Supernatants on Expression of Autophagy Genes and Hpv E6 and E7 Oncogenes in the Hela Cell Line, Cell Journal (2016)
23. Effect of Copper Sulfate on Expression of Endogenous L1 Retrotransposons in Hepg2 Cells (Hepatocellular Carcinoma), Biological Trace Element Research (2015)