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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
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Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster
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Hashimoto encephalopathy and antibodies against dimethylargininase-1: a rare cause of cognitive decline in a pediatric Down's syndrome patient
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA