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Recurrence and variability of germline EPCAM deletions in Lynch syndrome
Download from api.wiley.comDe novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
UploadA de novo paradigm for mental retardation.
Download from www.researchgate.netClinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Download from opus4.kobv.deVariation of CNV distribution in five different ethnic populations
Download from www.karger.comA new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Download from www.researchgate.netDiagnostic Genome Profiling in Mental Retardation
Download from www.ncbi.nlm.nih.govCHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
Download from www.ncbi.nlm.nih.govMutations in a new member of the chromodomain gene family cause CHARGE syndrome.
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