खोज परिणाम - Xinhua Bao

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia द्वारा Yan Chen, Xinhua Bao, Yongxin Wen, Jiaping Wang, Qingping Zhang, Jiayou Yan

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Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation द्वारा Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao, Yongxin Wen

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A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature द्वारा Meijiao Zhang, Liping Zhu, Huiping Wang, Ying Hao, Qingping Zhang, Chunyan Zhao, Xinhua Bao

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Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation द्वारा Qingping Zhang, Jiaping Wang, Jiarui Li, Xinhua Bao, Ying Zhao, Xiaoying Zhang, Liping Wei, Xiru Wu

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CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes द्वारा Linxia Zhang, Linxia Zhang, Yongxin Wen, Qingping Zhang, Yan Chen, Jiaping Wang, Kaili Shi, Lijun Du, Xinhua Bao

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SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures द्वारा Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu

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Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature द्वारा Lifen Duan, Lei Ye, Runxiu Yin, Ying Sun, Wei Yu, Yi Zhang, Haiyan Zhong, Xinhua Bao, Xin Tian

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