Associated Papers
Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.
Lima de Souza S et al.
Journal of Clinical Immunology, 2025
39928202 (PubMed )
Supplement: 10875_2025_1867_MOESM1_ESM.xlsx › S.Table1
Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.
Xu F et al.
Orphanet Journal of Rare Diseases, 2024
Mechanism, Functions, and Diagnostic Relevance of FXII Activation by Foreign Surfaces.
Konrath S et al.
Hamostaseologie, 2021
Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.
Sharma J et al.
Clinical Reviews in Allergy & Immunology, 2021
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis.
Wu X et al.
Bmc Medical Genetics, 2018
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