Associated Papers
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
Xu Y et al.
Orphanet Journal of Rare Diseases, 2024
39623453 (PubMed )
Supplement: 13023_2024_3472_MOESM1_ESM.docx
Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia.
Brunner C et al.
Journal of Clinical Immunology, 2002
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