[1] |
Tiantian Chen, Xiaodong Wang, Haiyan Yu.
Pregnancy outcome of twin pregnancy with Gitelman syndrome: a case report and literature review
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(05): 559-568.
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[2] |
Lulan Kan, Maoqiang Tian, Yimi Tang.
Children with mild Gitelman syndrome presenting with recurrent abdominal pain: a case report and literature review
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(04): 473-479.
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[3] |
Jialin Mu, Xuefei Leng, Fei Tian, Lina Wang, Zhihong Chen.
Sotos syndeome with a novel mutation in NSD1 gene: a case report and domestic literature review
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2022, 18(06): 692-702.
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[4] |
Xufeng Luo, Jianxiang Liao, Zhiqiang Luo, Jing Duan, Yongli Li, Jianfang Xu, Li Chen.
Na+ channel blockers in treatment of early-onset epileptic encephalopathy caused by SCN2A gene variation: a case report and literature review
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2022, 18(05): 585-590.
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[5] |
Mu Du, Xiaobo Chen, Fuying Song, Ziqin Liu, Kun Qian.
Clinical characteristics and genetic analysis of vitamin D-dependent rickets ⅠA caused by CYP27B1 gene mutation
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2022, 18(02): 175-184.
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[6] |
Junhua Tuo, Hua Kang, Juanjuan Wang, Qin Zhang, Zhi Zhao.
De novo mutation of fibrinogen 1 gene in neonatal Marfan syndrome: a case report and literature review
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2021, 17(03): 305-310.
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[7] |
Yutao Yuan, Jinlin Xing, Kefei Xie, Kai Yin.
Correlation between CT findings and BRAFV600E gene mutation and central lymph node metastasis in papillary thyroid carcinoma
[J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2023, 17(06): 611-614.
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[8] |
Haoli Fu, Cheng Zhang, Shuting Liang, Zequn Miao, Qingyu Meng, Lynzhen Huang, Lili Guo, Qianru Ouyang, Xin Xu, Yu Cao, Jingyi Zhang, Lejin Wang.
Identificationon of a novel nonsense mutation of FRMD7 in a family with congenital nystagmus
[J]. Chinese Journal of Ophthalmologic Medicine(Electronic Edition), 2022, 12(03): 152-157.
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[9] |
Ya’nan Dou, Xiaowei Fei, Jialiang Wei, Zhou Fei.
Analysis of the expression and mutation of PARK2 in pan-cancer based on multiple databases
[J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2021, 11(03): 139-146.
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[10] |
Cuiping Yang, Xiaojin Yang, Xu Quan, Ling Xie, Yunlin Wu, Ping Chen.
Effects of hepatocyte nuclear factor-1α mutation and adenomatous polyposis coli mutation on familial adenomatous polyposis cell proliferation
[J]. Chinese Journal of Digestion and Medical Imageology(Electronic Edition), 2022, 12(04): 228-231.
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[11] |
Jing He, Jie Shi, Jiuluan Lin, Zhaohui Sun, Haixiang Wang, Bingqing Zhang, Yiou Liu, Xiancheng Song, Qian Feng, Jianjun Bai, Wenjing Zhou.
Surgical treatment of tuberous sclerosis with refractory epilepsy in children
[J]. Chinese Journal of Clinicians(Electronic Edition), 2021, 15(08): 597-600.
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[12] |
Yunjian Xu, Jianping Wang, Yongping Lin, Juhong Jiang.
Feasibility and application of small volume nucleic acid sample to detect the EGFR mutation in peripheral blood from patients with advanced non-small cell lung cancer
[J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2021, 09(03): 164-168.
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[13] |
Qian Wang, Yongping Wang, Xinpei Li, Chengyan Yang, Hui Xu, Fengjuan Sun, Yaping Liu.
Diagnostic characteristics of hypokalemia with gene mutations
[J]. Chinese Journal of Diagnostics(Electronic Edition), 2023, 11(02): 115-119.
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[14] |
Wenxia Shi, Yongxin Guo, Junjie Shen, Wenming Chen, Wenwen Guo, Tongfeng Zhao, Dandan Zhao, Jian Chen, Zhongliang Sun, Daoping Sun.
The impact of RUNX1 mutations on clinical characteristics, therapeutic efficacy, and prognosis in adults with acute myeloid leukemia
[J]. Chinese Journal of Diagnostics(Electronic Edition), 2022, 10(03): 163-170.
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[15] |
Hui Huang, Weiyun Wang, Chen Cheng, Ya Liu, Xinlin Chen.
Prenatal diagnostic characteristics and literature review of Meckel-Gruber syndrome
[J]. Chinese Journal of Diagnostics(Electronic Edition), 2022, 10(02): 77-82.
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