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Detection of clinically relevant copy number variants with whole-exome sequencing
Download from www.researchgate.netPoint mutations as a source of de novo genetic disease
Download from www.researchgate.netResolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
Download from www.ncbi.nlm.nih.govNext-generation genetic testing for retinitis pigmentosa
Download from onlinelibrary.wiley.comMutations inDYNC1H1cause severe intellectual disability with neuronal migration defects
UploadDiagnostic exome sequencing in persons with severe intellectual disability
Download from www.researchgate.netA de novo paradigm for mental retardation.
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