Associated Papers
Benefit of Anakinra in Treating Pediatric Secondary Hemophagocytic Lymphohistiocytosis.
Eloseily EM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
Genetic defects in cytolysis in macrophage activation syndrome.
Zhang M et al.
Current Rheumatology Reports, 2014
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V et al.
Journal of Medical Genetics, 2010
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
zur Stadt U et al.
American Journal of Human Genetics, 2009
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