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Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome
Download from doi.orgPHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
Download from doi.orgTwist exome capture allows for lower average sequence coverage in clinical exome sequencing
UploadHuman ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
Download from doi.orgBiallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
UploadHeterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Download from doi.orgGestaltMatcher facilitates rare disease matching using facial phenotype descriptors
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