Refreshing results…
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Download from doi.orgGenetic analysis of MPO variants in four psoriasis subtypes in patients from Germany
UploadRare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis
UploadExpanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency
Download from onlinelibrary.wiley.comExpanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
Download from dx.doi.orgMissing publications? Search for publications with a matching author name.