Items where Author is "Khorrami, M."

Article

(2024) ELFN1 deficiency is associated with an autosomal recessive neurodevelopmental disorder with epilepsy. European Journal of Human Genetics. pp. 1510-1511. ISSN 1018-4813

(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)

(2023) ADAR Expression and Single Nucleotide Variants in Multiple Sclerosis Patients Affect the Response to Interferon Beta Therapy. Global Medical Genetics. pp. 164-171. ISSN 2699-9404 (Electronic) 2699-9404 (Linking)

(2023) Developmental and epileptic encephalopathy 89: A novel bi-allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile. Epilepsia Open. pp. 571-585.

(2023) Griscelli syndrome type 1: a novel pathogenic variant, and review of literature. Molecular Genetics and Genomics. pp. 485-493. ISSN 1617-4615

(2023) A Novel Biallelic Variant in <i>CDH23</i> Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation. Audiology and Neurotology. pp. 317-326. ISSN 1420-3030

(2023) A comparative study of dialectical behavior therapy and aripiprazole on marital instability of in patients with hypersexual. Advanced Biomedical Research. p. 8. ISSN 2277-9175

(2022) Does the Simple Renal Cyst Treatment Improve Renal Function: A Pilot Study. ADVANCED BIOMEDICAL RESEARCH. ISSN 2277-9175 J9 - ADV BIOMED RES-INDIA

(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

(2021) Expression and clinical significance of IL7R, NFATc2, and RNF213 in familial and sporadic multiple sclerosis. SCIENTIFIC REPORTS. ISSN 2045-2322 J9 - SCI REP-UK

(2021) Gene expression profiles of YAP1, TAZ, CRB3, and VDR in familial and sporadic multiple sclerosis among an Iranian population. Scientific Reports. ISSN 2045-2322

(2021) Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature. J Hum Genet. ISSN 1434-5161

(2021) Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival. J Mol Neurosci. ISSN 0895-8696

(2021) Using whole exome sequencing in determining the genetic cause of Parkinson disease in an Iranian family. Neurology Asia. pp. 77-83. ISSN 1823-6138

(2021) An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis. Journal of Neuroimmunology. ISSN 0165-5728

(2018) A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations. Molecular Neurobiology. pp. 3477-3489. ISSN 1559-1182 (Electronic) 0893-7648 (Linking)