Items where Author is "Khorshid, H. R. K."

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) Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation. Journal of Medical Genetics. p. 12. ISSN 0022-2593

(2024) A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review. Molecular Genetics & Genomic Medicine. p. 10. ISSN 2324-9269

(2024) RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review. Molecular Genetics & Genomic Medicine. p. 9. ISSN 2324-9269

(2023) Implementation of an In-House Platform for Rapid Screening of SARS-CoV-2 Genome Variations. Archives of Iranian Medicine. pp. 69-75. ISSN 1029-2977

(2022) Disease Waves of SARS-CoV-2 in Iran Closely Mirror Global Pandemic Trends. Archives of Iranian Medicine. pp. 508-522. ISSN 1029-2977

(2022) Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion). HUMAN MUTATION. E1-E23. ISSN 1059-7794 1098-1004 J9 - HUM MUTAT

(2019) Identification of PROS1 as a Novel Candidate Gene for Juvenile Retinitis Pigmentosa. International Journal of Molecular and Cellular Medicine. pp. 179-190. ISSN 2251-9637

(2019) MFSD8 gene mutations; evidence for phenotypic heterogeneity. Ophthalmic Genetics. pp. 141-145. ISSN 1381-6810