Items where Author is "Biglari, S."

(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) 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) Molecular diagnosis of non-syndromic hearing loss in seven Iranian families using whole-exome sequencing. BMC medical genomics. ISSN 1755-8794 (Electronic) 1755-8794 (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)

(2026) Psychometric evaluation of the Persian version of the adult Nine Item ARFID screen (Persian- NIAS). Journal of Eating Disorders. p. 13. ISSN 2050-2974

(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) Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism. Frontiers in Endocrinology. p. 14. ISSN 1664-2392

(2025) Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. Movement Disorders. pp. 2531-2537. ISSN 0885-3185

(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

(2025) A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family. Egyptian Journal of Medical Human Genetics. p. 7. ISSN 1110-8630

(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