Journal of Diagnostics Concepts & Practice ›› 2013, Vol. 12 ›› Issue (06): 606-609.doi: 10.16150/j.1671-2870.a0404
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Online:
2013-12-25
Published:
2013-12-25
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URL: https://www.qk.sjtu.edu.cn/jdcp/EN/10.16150/j.1671-2870.a0404
[1] | HE Qinyu, WANG Wei, CHEN Lifen, ZHANG Xuelei, DONG Zhiya. Diagnosis and treatment of familial male precocious puberty caused by LHCGR gene mutation: two case reports and literature review [J]. Journal of Diagnostics Concepts & Practice, 2022, 21(05): 598-605. |
[2] | HAO Xu, WANG Weiming. Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report [J]. Journal of Diagnostics Concepts & Practice, 2022, 21(04): 527-529. |
[3] | ZHOU Lu, LEI Hang, HONG Ye, JIN Shuang, DONG Yongqin, WANG Xuefeng, CAI Xiaohong. AwB subtype caused by a novel ABO *A allele and its molecular mechanisms [J]. Journal of Diagnostics Concepts & Practice, 2021, 20(06): 547-551. |
[4] | GU Yijin, LI Anqi, DONG Lei, XU Haimin, SHEN Xia, XIE Jialing, YUAN Fei, WANG Chaofu. Correlation of KIT and PDGFRA mutation status with clinicopathologic features in primary and recurrent or metastatic gastrointestinal stromal tumors [J]. Journal of Diagnostics Concepts & Practice, 2021, 20(03): 257-264. |
[5] | LIN Xiaoyun, QI Luyue, ZHANG Zhenlin, YUE Hua. Clinical manifestation and gene mutation of multiple endocrine neoplasia 2A: analysis of a pedigree data [J]. Journal of Diagnostics Concepts & Practice, 2020, 19(05): 481-486. |
[6] | LEI Hang, FAN Liangfeng, CAI Xiaohong, WANG Yuqing, LIU Xi, JIN Sha, SHEN Wei, LU Qiong, XIANG Dong, WANG Xuefeng, ZOU Wei. The study on molecular basis of ABO blood subgroups in the Chinese population [J]. Journal of Diagnostics Concepts & Practice, 2020, 19(04): 364-369. |
[7] | PENG Zhenping, XIANG Xixi, ZHANG Sujiang, LI Jiaming. Chronic neutrophilic leukemia with leukemia-like reaction as the first-onset manifestation: a report of 2 cases and literature review [J]. Journal of Diagnostics Concepts & Practice, 2020, 19(02): 122-128. |
[8] | YANG Chihui, ZHANG Jing, MENG Leijun, GONG Liping, CHANG Qing, ZHANG Hong, ZENG Naiyan. Screening and identification of clinical molecular targets in papillary thyroid cancers [J]. Journal of Diagnostics Concepts & Practice, 2019, 18(04): 402-411. |
[9] | CAI Rong, MIN Xuewen, CHEN Meirong, SHEN Yating, SHI Qunli, ZHOU Xiaodie. Expression of BRAF V600E (VE1) in thyroid papillary carcinoma and its clinical significance [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(05): 552-556. |
[10] | WANG Dengfeng, CUI Wenyan, ZOU Wei, LI Fang, WANG Xuefeng, CAI Xiaohong. Molecular mechanism of Ax subtype caused by p.M142I mutation in alpha 1-3-N-acetylgalactosaminyltransferase [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(03): 260-265. |
[11] | KONG Cunquan, HE Yi, LIAN Lixia, XU Shen, WANG Xuefeng, ZOU Wei, CAI Xiaohong. AxB blood group phenotype caused by ABO gene c.2T>C mutation and GTA aberrant translation [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(02): 155-158. |
[12] | LU Jing, XU Yufei, QING Yanrong, HAN Cong, LI Niu, YU Tingting, YAO Ruen, WANG Jian. Concurrent gene mutation analysis of a developmental delayed child with Rett syndrome and Noonan syndrome [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(02): 147-150. |
[13] | JIN Peipei, LIANG Qian, DAI Jing, DING Qiulan, SUN Shunchang, WANG Xuefeng. Phenotype and genotype analysis of a Chinese pedigree with 2N type von Willebrand disease [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(02): 151-154. |
[14] | XIE Xiaoling, MA Siyu, WU Xi, LU Yeling, WANG Xuefeng, DING Qiulan. Molecular pathogenesis of two novel splice site mutations of F8 in hemophilia A [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(01): 32-37. |
[15] | WANG Shu, ZHANG Yunxiang, SUI Jingni, LU Jing, FAN Huiyong, WANG Chao, CHEN Bing.. Analysis of additional mutation pattern accompanied with CEBPA mutations in patients with the cytogenetically normal acute myeloid leukemia [J]. Journal of Diagnostics Concepts & Practice, 2017, 16(05): 498-503. |
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