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X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation
20小时前
待确认
A new missense variant in RAB3GAP2 in a family with muscular dystrophy–short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
5个月前
已完结
Assessment of ASC Oligomerization by Flow Cytometry
6个月前
已完结
Dominant‐negative CARD11 loss‐of‐function variant presenting with hypereosinophilic syndrome
7个月前
已完结
A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies
8个月前
已完结
Immunoglobulin G4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant
9个月前
已完结
Clinical and functional spectrum of RAC2-related immunodeficiency
11个月前
已完结
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