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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
UploadGestaltMatcher facilitates rare disease matching using facial phenotype descriptors
UploadMissense variant contribution to USP9X-female syndrome
Download from doi.orgA dominant vimentin variant causes a rare syndrome with premature aging
Download from www.nature.comA genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1
Download from europepmc.orgIdentification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica
Download from www.medicaljournals.seGenome-wide association study of colorectal cancer identifies six new susceptibility loci
Download from www.nature.comClinical utility gene card for: Biotinidase deficiency-update 2015
Download from www.nature.comClinical zinc deficiency as early presentation of Wilson disease
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