Items where Author is "Moghaddam, A. S."

(2026) Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients. Clinical genetics. pp. 564-570. ISSN 1399-0004 (Electronic) 0009-9163 (Linking)

(2026) Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses. Human Genetics. p. 19. ISSN 0340-6717

(2026) Novel Frameshift Deletion Pathogenic Variant Characterization in Tuberous Sclerosis-2 Using Exome Sequencing and Molecular Dynamics Simulation. Biochemical genetics. pp. 4986-5005. ISSN 1573-4927 (Electronic) 0006-2928 (Linking)

(2025) Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clinical genetics. pp. 366-368. ISSN 1399-0004 (Electronic) 0009-9163 (Linking)

(2025) Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation. Journal of Medical Genetics. p. 12. ISSN 0022-2593

(2025) DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia. Journal of Clinical Immunology. p. 14. ISSN 0271-9142

(2025) A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family. Egyptian Journal of Medical Human Genetics. p. 7. ISSN 1110-8630

(2024) Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review. Genetics in Medicine. p. 33. ISSN 1098-3600

(2015) Effect of Soy Flour Enriched Bread on Inflammatory Markers among Type 2 Diabetic Women: A Cross-over Randomised Controled Clinical Trial. Diabetes Technology & Therapeutics. A48-A48. ISSN 1520-9156