Items where Author is "Shahrooei, M."

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

(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) 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) Hyper IgE Cases with novel genotypes and phenotypes: How Different Do They Present? Clinical Immunology. p. 1. ISSN 1521-6616

(2024) The immunopathological landscape of human pre-TCRa deficiency: From rare to common variants. Science. ISSN 00368075 (ISSN)

(2024) The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants. Science. p. 19. ISSN 0036-8075

(2023) Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG <i>RFXANK</i> Founder Mutation in the Iranian Population. Journal of Clinical Immunology. pp. 1941-1952. ISSN 0271-9142

(2023) Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency. Journal of Clinical Immunology. pp. 217-228. ISSN 1573-2592 (Electronic) 0271-9142 (Linking)

(2023) A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran. Pediatric Rheumatology. p. 8.

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

(2022) TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases. Pediatric Rheumatology. p. 8.

(2021) Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update). BLOOD CELLS MOLECULES AND DISEASES. ISSN 1079-9796 1096-0961 J9 - BLOOD CELL MOL DIS

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

(2021) A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia. Andrologia. e14080. ISSN 0303-4569

(2020) Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome. Iranian Journal of Allergy Asthma and Immunology. pp. 193-199. ISSN 1735-1502

(2019) Clinical and Laboratory Manifestations of Autoinflammatory Diseases: The Results from the First Iranian Registry. Journal of Clinical Immunology. S135-S136. ISSN 0271-9142

(2019) Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth. International Journal of Molecular and Cellular Medicine. pp. 169-178. ISSN 2251-9637