Refreshing results…
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia
Download from link.springer.comBiallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
UploadLRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency
Download from link.springer.comMissing publications? Search for publications with a matching author name.