JIANG Yuwu | Department of Pediatrics, Peking University First Hospital

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著作論文

Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
Genetic studies on SURF1 mutations in Chinese patients with mitochondrial encephalopathy
A Clinical Survey of 65 Patients with Leigh Syndrome
Alpers syndrome with prominent white matter changes
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay

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