Associated Papers
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.
Moresco G et al.
Genes & Genomics, 2025
39467966 (PubMed )
Supplement: 13258_2024_1589_MOESM1_ESM.xlsx › Foglio1
Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.
Huang J et al.
Frontiers in Public Health, 2024
38317798 (PubMed )
Supplement: Data_Sheet_1.XLSX › Sheet1
An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.
Das J et al.
Expert Review of Clinical Immunology, 2021
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J et al.
Journal of Clinical Immunology, 2018
Select a paper to view details