Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes.
Plengvidhya N et al.
Human Genetics, 2026
Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.
Wang Z et al.
Translational Pediatrics, 2025
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4
Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.
Tang WJ et al.
World Journal of Clinical Cases, 2021
Screening for Genetic Mutations for the Early Diagnosis of Common Variable Immunodeficiency in Children With Refractory Immune Thrombocytopenia: A Retrospective Data Analysis From a Tertiary Children's Center.
Ma J et al.
Frontiers in Pediatrics, 2020
Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.
Sheng L et al.
Bmc Medical Genetics, 2019
Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.
Ye Z et al.
Inflammatory Bowel Diseases, 2017
Extrachromosomal driver mutations in glioblastoma and low-grade glioma.
Nikolaev S et al.
Nature Communications, 2014
25471132 (PubMed )
Supplement: NIHMS60838-supplement-Supplementary_Data_2.xlsx › SupplementaryData2
Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients.
Yao J et al.
International Journal of Immunopathology and Pharmacology, 0
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