[1] |
Xiaoling Tie, Yi Liu, Ying Yang, Fengyu Che.
Clinical features and genetic analysis of Rubinstein-Taybi syndrome:three cases report and literature review
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2024, 20(04): 452-459.
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[2] |
Li Wang, Lei Cao, Yadan Wang, Wei Zhang.
Krabbe disease: a case report and literature review
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2024, 20(03): 339-345.
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[3] |
Ming Wu, Fenhua Zhu, Danru Liu, Yeheng Yu, Tong Lin, Jian Li.
Children mucolipidosis caused by GNPTAB/GNPTG gene mutations: two cases report and literature review
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2024, 20(02): 185-191.
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[4] |
Hexuan Zhang, Xue Yang, Lyujin Wang, Linjie Li, Xingyu Liu.
Screening and genetic mutation analysis of glucose-6-phosphate dehydrogenase deficiency in neonates
[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2024, 20(02): 200-208.
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[5] |
Xueling Zeng, Siyuan Yang, Yufei Chang, Hongxin Zhao, Linghang Wang.
Characteristics of respiratory pathogens and immunological features of 176 patients with human immunodeficiency virus and pulmonary infection
[J]. Chinese Journal of Experimental and Clinical Infectious Diseases(Electronic Edition), 2024, 18(03): 142-148.
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[6] |
Ying Huang, Xuan Li, Mengyang Liu, Guilin Peng, Xin Xu, Bing Wei, Chao Yang.
Targeted combination therapy for advanced lung adenocarcinoma with double mutation of KRAS and BRAF genes after double lung transplantation:a case report
[J]. Chinese Journal of Transplantation(Electronic Edition), 2024, 18(05): 298-301.
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[7] |
Yun Liu, Yue Shi, Dongmei Guo, Zhiyuan Qiu, Lijuan Wang, Xuehong Ran, Qianpeng Li.
Treatment of myeloid neoplasm with germline mutation by hematopoietic stem cell transplantation:three cases and literature review
[J]. Chinese Journal of Transplantation(Electronic Edition), 2024, 18(04): 230-234.
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[8] |
Miao Lai, Xin Jing, Guizhen Li, Yi Li.
Clinicopathological and prognostic significance of EGFR mutant subtypes in patients with non-small cell lung cancer
[J]. Chinese Journal of Lung Diseases(Electronic Edition), 2024, 17(05): 731-737.
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[9] |
Qi Zheng, Jiequn Ma, Yanbing Zhang, Zijun Liao, Rui Zhang.
Clinical value of EPHA5 mutation in predicting the prognosis of lung adenocarcinoma treated with immune checkpoint inhibitors
[J]. Chinese Journal of Lung Diseases(Electronic Edition), 2024, 17(04): 548-552.
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[10] |
Wenzhu Liu, Yao Tang, Fuchen Liu.
Advances in the application of induced pluripotent stem cells in neuromuscular diseases
[J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2024, 14(06): 367-373.
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[11] |
Bin Lu, Tianqi Zhang, Ye Xu, Fangqi Liu.
Clinicopathological and molecular characteristics of classical familial adenomatous polyposis in the Chinese population
[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 38-44.
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[12] |
Dayang Zhou, Chang Liu, Jian Huang, Ning Xu, Xiang Ji, Kexin Yang, Jibang Peng, Hai Pan, Wenjing Xu, Zhu Zhu.
A casereport of BRCA1 p.R166fs mutation in colon cancer
[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 68-71.
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[13] |
Yao Yao, Yang Gao, Junqi Shan, Xinyu Li, Wei Han, Zengjun Li, Yanlai Sun.
A case report of c.531+6T>G heterozygous mutation in familial adenomatous polyposis
[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 72-77.
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[14] |
Donglei Zhang, Xiaoyan Liu, Sanyun Wu, Yi Zhou, Xian Zhang.
Clinical and genetic analysis of a inherit factor Ⅻ deficiency pedigree and analysis of factor Ⅻ deficiency in the Chinese population
[J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2024, 12(03): 162-169.
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[15] |
Teng Zhang, Yanling Tao.
A case of secondary myelodysplastic syndrome in a patient with Shwachman-Diamond syndrome and literature review
[J]. Chinese Journal of Diagnostics(Electronic Edition), 2024, 12(03): 178-182.
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