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De novo mutations in CCND2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
UploadDuplications of 17q12 can cause familial fever-related epilepsy syndromes
Download from www.researchgate.netHUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
Download from hdl.handle.netA Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome
Download from academic.oup.comNext‐generation sequencing in >450 families with X‐linked intellectual disability
UploadLooking for novel genes causing syndromic forms of microcephaly
UploadPhenotype and genotype in 101 males with X-linked creatine transporter deficiency
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