Refreshing results…
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
UploadDe novo variants in neurodevelopmental disorders—experiences from a tertiary care center
UploadImpaired complex I repair causes recessive Leber’s hereditary optic neuropathy
Download from doi.orgEarly-onset phenotype of bi-allelic GRN mutations
Download from academic.oup.comBi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Download from doi.orgMissing publications? Search for publications with a matching author name.