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Frontiers in Immunology|December 28, 2020
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector EngagementYuta Ohishi, Sandra Ammann, Vahid Ziaee, et al.
BMC Immunology|July 27, 2025
Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel casesErta Rajabi, Mahsa Choroom Kheirabadi, Nasrin Alipour Olyaei, et al.
Rheumatology (Oxford, England)|March 11, 2021
Phenotypic analysis of pyrin-associated autoinflammation with neutrophilic dermatosis patients during treatmentErika Van Nieuwenhove, Ellen De Langhe, James Dooley, et al.
Journal of Clinical Immunology|October 13, 2022
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 DeficiencyIlad Alavi Darazam, Atousa Hakamifard, Mana Momenilandi, et al.
Clinical Genetics|December 20, 2024
Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico AnalysisSajjad Biglari, Pooneh Nikuei, Atefeh Mir, et al.
Journal of Human Immunity|May 29, 2026
STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapyNima Parvaneh, Rasol Molatefi, Conor Gruber, et al.
Journal of Human Immunity|October 17, 2025
Two different forms of inherited human TCRα chain deficiencyMarie Materna, Simin Seyedpour, Tom Le Voyer, et al.
Nature Communications|March 2, 2018
Aggregating sequences that occur in many proteins constitute weak spots of bacterial proteostasisLadan Khodaparast, Laleh Khodaparast, Rodrigo Gallardo, et al.
Journal of Clinical Immunology|August 16, 2023
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian PopulationMohadese Sadat Mousavi Khorshidi, Yoann Seeleuthner, Zahra Chavoshzadeh, et al.
Journal of Medical Genetics|March 18, 2025
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulationSajjad Biglari, Mohammad Shahrooei, Fatemeh Vahidnezhad, et al.
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