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Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study
Download from onlinelibrary.wiley.comGestaltMatcher 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
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