Items where Author is "Vahidnezhad, H."

Article

(2026) Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients. Clinical genetics. pp. 564-570. ISSN 1399-0004 (Electronic) 0009-9163 (Linking)

(2026) Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses. Human Genetics. p. 19. ISSN 0340-6717

(2026) Genotype-phenotype correlations and cancer risk in monogenic epidermodysplasia verruciformis. Journal of the European Academy of Dermatology and Venereology : JEADV. e755-e758. ISSN 1468-3083 (Electronic) 0926-9959 (Print) 0926-9959 (Linking)

(2026) Human LFA-1 governs T cell immune surveillance of the skin. Science Immunology. p. 30. ISSN 2470-9468

(2026) Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy. Journal of medical genetics. ISSN 1468-6244 (Electronic) 0022-2593 (Linking)

(2026) Novel Frameshift Deletion Pathogenic Variant Characterization in Tuberous Sclerosis-2 Using Exome Sequencing and Molecular Dynamics Simulation. Biochemical genetics. pp. 4986-5005. ISSN 1573-4927 (Electronic) 0006-2928 (Linking)

(2025) Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review. International Journal of Immunogenetics. pp. 233-248. ISSN 1744-3121

(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 Systematic Review of Mendelian Pyoderma Gangrenosum: Clinical and Genetic Characteristics in 120 Published Patients. Experimental Dermatology. p. 16. ISSN 0906-6705

(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. Journal of Investigative Dermatology. S83-S83. ISSN 0022-202X

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

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