Items where Author is "Sarmadi, A."
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(2024) Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. Bmc Medical Genomics. p. 10.
(2024) Interdependency of NINJ2 gene expression and polymorphism with susceptibility and response to interferon beta in patients with multiple sclerosis. The International journal of neuroscience. pp. 347-352. ISSN 1563-5279 (Electronic) 0020-7454 (Linking)
(2022) Interdependency of NINJ2 gene expression and polymorphism with susceptibility and response to Interferon Beta in patients with Multiple Sclerosis. Int J Neurosci. pp. 1-9. ISSN 0020-7454
(2022) Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscul Disord. ISSN 0960-8966
(2022) Whole exome sequencing identified a novel<i> LAMA2</i> frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscular Disorders. pp. 776-784. ISSN 0960-8966
(2021) Knockdown of SOX12 Expression Induced Apoptotic Factors is Associated with TWIST1 and CTNNB1 Expression in Human Acute Myeloid Leukemia Cells. Int J Mol Cell Med. pp. 249-258. ISSN 2251-9637 (Print) 2251-9637
(2020) Molecular genetic study in a cohort of Iranian families suspected to maturity-onset diabetes of the young, reveals a recurrent mutation and a high-risk variant in the CEL gene. Advanced Biomedical Research. ISSN 2277-9175
(2019) Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran. Adv Biomed Res. p. 55. ISSN 2277-9175 (Print) 2277-9175 (Linking)