Associated Papers
Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.
Kose H et al.
Frontiers in Immunology, 2026
Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2025
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.
Wong CCY et al.
Journal of Human Immunity, 2025
Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Pekpak Şahinoğlu E et al.
European Journal of Pediatrics, 2025
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Briggs TA et al.
Journal of Clinical Immunology, 2016
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.
de Bruin C et al.
Hormone Research in Paediatrics, 2016
Select a paper to view details