Qi Yu | Peking University First Hospital

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著作論文

Genetic studies on SURF1 mutations in Chinese patients with mitochondrial encephalopathy
A Clinical Survey of 65 Patients with Leigh Syndrome
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

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