Items where Author is "Vahidnezhad, H."

(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

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

(2025) Filaggrinopathies-FLG/FLG2: Diagnostic Complexities and Immunotherapy. The Journal of investigative dermatology. ISSN 1523-1747 (Electronic) 0022-202X (Linking)

(2025) A novel ITGB2 variant in a patient with severe recurrent pyoderma gangrenosum-like lesions and underlying leukocyte adhesion deficiency type I: case report and literature review. Archives of Dermatological Research. p. 9. ISSN 0340-3696

(2024) Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review. Genetics in Medicine. p. 33. ISSN 1098-3600

(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) Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet Journal of Rare Diseases. p. 18.

(2022) Whole-transcriptome sequencing identifies postzygotic <i>ATP2A2</i> mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease. Experimental Dermatology. pp. 943-948. ISSN 0906-6705

(2022) Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease. EXPERIMENTAL DERMATOLOGY. pp. 943-948. ISSN 0906-6705 1600-0625 J9 - EXP DERMATOL

(2022) Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. JCI INSIGHT. ISSN 2379-3708 J9 - JCI INSIGHT

(2022) Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. Journal of Investigative Dermatology. S83-S83. ISSN 0022-202X

(2021) Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 3812-+. ISSN 0092-8674