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A partial form of inherited human USP18 deficiency underlies infection and inflammation
UploadTreatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib
UploadSpectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
UploadInherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease
Download from doi.orgArterial abnormalities identified in kidneys transplanted into children during the COVID‐19 pandemic
Download from onlinelibrary.wiley.comMutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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