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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Download from onlinelibrary.wiley.comExome sequencing identifies the first genetic determinants of sirenomelia in humans
UploadPatients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis
UploadIdentification of mobile retrocopies during genetic testing: consequences for routine diagnosis
UploadHydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
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