Items where Author is "Sedighzadeh, S."

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

(2025) Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock. Bmc Pediatrics. p. 8.

(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

(2023) Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. European journal of human genetics : EJHG. pp. 97-104. ISSN 1476-5438 (Electronic) 1018-4813 (Print) 1018-4813 (Linking)

(2023) Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review. Movement Disorders Clinical Practice. pp. 101-108. ISSN 2330-1619 (Electronic) 2330-1619 (Linking)

(2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. pp. 3273-3288. ISSN 0006-8950