Items where Author is "Sedghi, M."

Article

(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) Association of <i>SOD2</i> rs2758339, rs5746136 and rs2842980 polymorphisms with increased risk of breast cancer: a haplotype-based case-control study. Genes & Genomics. pp. 1165-1178. ISSN 1976-9571

(2023) Association of SOD2 rs2758339, rs5746136 and rs2842980 polymorphisms with increased risk of breast cancer: a haplotype-based case-control study. Genes & Genomics. pp. 1165-1178. ISSN 2092-9293 (Electronic) 1976-9571 (Linking)

(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)

(2023) Causes and Risk Factors of Drug-Resistant Epilepsy in Children. Iranian Journal of Child Neurology. pp. 89-97. ISSN 1735-4668

(2023) On genotype-phenotype relationship of dystrophinopathies among Iranian population. Current Journal of Neurology. pp. 231-237. ISSN 2717-011X

(2022) Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations. IRANIAN JOURNAL OF CHILD NEUROLOGY. pp. 193-198. ISSN 1735-4668 2008-0700 J9 - IRAN J CHILD NEUROL

(2021) Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum. Caspian Journal of Neurological Sciences. pp. 99-103. ISSN 23834307 (ISSN)

(2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. pp. 584-600. ISSN 0006-8950

(2019) Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. BRAIN COMMUNICATIONS. ISSN 2632-1297 J9 - BRAIN COMMUN

(2018) Decline in peripheral blood NKG2D+CD3+CD56+NKT cells in metastatic colorectal cancer patients. Bratislava Medical Journal-Bratislavske Lekarske Listy. pp. 6-11. ISSN 0006-9248

(2017) Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Scientific Reports. ISSN 2045-2322

(2016) Clinical features of the myasthenic syndrome arising from mutations in GMPPB. Journal of Neurology Neurosurgery and Psychiatry. pp. 802-809. ISSN 0022-3050

(2016) Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families. Journal of Research in Medical Sciences. ISSN 1735-1995

(2016) Reciprocal 22q11.2 deletion and duplication in siblings with karyotypically normal parents. Cytogenetic and Genome Research. pp. 1-5. ISSN 14248581 (ISSN)

(2015) Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1. Journal of Child Neurology. pp. 558-562. ISSN 0883-0738

(2015) Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population. Clinical Oral Investigations. pp. 891-894. ISSN 1432-6981

(2015) Gene Mutation Analysis in Iranian Children With Nephronophthisis A Two-Center Study. Iranian Journal of Kidney Diseases. pp. 119-125. ISSN 1735-8582

(2015) Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation. Gene. pp. 150-152. ISSN 0378-1119

(2015) Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication. Genetics Research International. ISSN 2090-3154

(2015) Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. pp. 2493-2504. ISSN 0006-8950

(2015) Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism in Iranian familiar population. Molecular Biology. pp. 848-851. ISSN 0026-8933

(2015) Structural and functional impact of missense mutations in TPMT: An integrated computational approach. Computational Biology and Chemistry. pp. 48-55. ISSN 1476-9271