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A novel CCM1mutation associated with multiple cerebral and vertebral cavernous malformations
Download from dx.doi.orgLower motor neuron disease with respiratory failure caused by a novel MAPT mutation
Download from www.researchgate.netThe brain is hypothermic in patients with mitochondrial diseases
Download from journals.sagepub.comIn vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay
Download from www.researchgate.net6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes
Download from dx.doi.orgThe m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
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