Associated Papers
Pathogenic variants in the fibronectin type III domain of leptin receptor: Molecular dynamics simulation and structural analysis.
Kato T et al.
Journal of Molecular Graphics & Modelling, 2025
Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities.
Li SY et al.
Heliyon, 2025
Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.
Carrabba M et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
35874699 (PubMed )
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