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Novel D0CK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23
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作者 Bing Bai yi-ran guo +4 位作者 Yin-Hong Zhang Chan-Chan Jin Jin-Man Zhang Hong Chen Bao-Sheng Zhu 《Chinese Medical Journal》 SCIE CAS CSCD 2019年第5期600-603,共4页
To the Editor: Early infantile epileptic encephalopathy 23 (EIEE23;OMIM #615859) is a rare (<1/1,000,000 worldwide) kind of inherited autosomal recessive disorder. Patients with EIEE23 are characterized by in tract... To the Editor: Early infantile epileptic encephalopathy 23 (EIEE23;OMIM #615859) is a rare (<1/1,000,000 worldwide) kind of inherited autosomal recessive disorder. Patients with EIEE23 are characterized by in tractable seizures between 2 and 6 months of age. 展开更多
关键词 D0CK7 CHINESE PATIENT EARLY INFANTILE epileptic ENCEPHALOPATHY 23
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