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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Download from doi.orgThe clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Download from academic.oup.comVariants of human CLDN9 cause mild to profound hearing loss
Download from onlinelibrary.wiley.comNeuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
Download from www.nature.comMutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
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