Items where Author is "Khorram, E."

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)

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

(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) Two distinct deleterious causative variants in a family with multiple cancer-affected patients. Advanced Biomedical Research. p. 6. ISSN 2277-9175

(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 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

(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