Items where Author is "Mir, A."

Article

(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)

(2024) Diagnostic Performance of Ultrasonography for Identification of Small Bowel Obstruction; a Systematic Review and Meta-analysis. Archives of Academic Emergency Medicine. p. 11.

(2024) Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability. Laboratory medicine. pp. 204-208. ISSN 1943-7730 (Electronic) 0007-5027 (Linking)

(2024) A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems. Molecular Genetics & Genomic Medicine. e2305. ISSN 2324-9269 (Electronic) 2324-9269 (Linking)

(2023) The Introduction of Basic Fibroblast Growth Factor Promotes Quadriceps Muscle Regeneration after Damage in Mice. Journal of Sciences, Islamic Republic of Iran. pp. 111-117. ISSN 10161104 (ISSN)

(2023) Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature. Bmc Medical Genomics. p. 20.

(2023) A deleterious frameshift insertion mutation in the <i>ZNF142</i> gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review. Molecular Genetics & Genomic Medicine. p. 11. ISSN 2324-9269

(2023) A novel heterozygous truncating variant in the <i>AGO1</i> gene in an Iranian family with schizophrenia as an unreported symptom. Annals of Human Genetics. pp. 295-301. ISSN 0003-4800