[1] |
FENG Xuan, ZHANG Qinghua, WANG Xing, HE Jing, LIANG Jici, JIA Chunyang, LIN Pengwu, ZHU Shaohua, HAO Shengju.
Evaluation of clinical application of expanded non-invasive prenatal testing for chromosome copy number variation
[J]. Laboratory Medicine, 2023, 38(8): 730-737.
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[2] |
ZHANG Ying, JING Lijuan, LI Li.
Relationship between the expression of miR-138 in peripheral blood mononuclear cells of hepatitis B virus proliferation in carriers
[J]. Laboratory Medicine, 2023, 38(6): 559-562.
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[3] |
YU Tingting, WANG Jian.
Progress and challenges in diagnosis and treatment of rare diseases
[J]. Laboratory Medicine, 2023, 38(2): 103-105.
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[4] |
CAI Xiaoyi, LOU Dan, YANG Xingge, WANG Jian.
Genetic analysis on 15 cases of suspected Duchenne muscular dystrophy/Becker muscular dystrophy
[J]. Laboratory Medicine, 2023, 38(2): 106-111.
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[5] |
TONG Wenjia, SONG Conglei, XU Yuanyuan, LI Min, JIN Danqun.
Genetic analysis of Poirier-Bienvenu neurodevelopmental syndrome
[J]. Laboratory Medicine, 2023, 38(2): 112-116.
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[6] |
CAI Chunyan, SHANGGUAN Huakun, WU Wenyong, ZHANG Ying, YUAN Xin, CHEN Ruimin.
Clinical phenotypes and genetics analysis of X-linked intellectual disability caused by HUWE1 gene variation
[J]. Laboratory Medicine, 2023, 38(2): 117-123.
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[7] |
CHENG Huanhuan, ZHAO Yuwei.
Clinical characteristic and genetic test analysis of 2 neonates with congenital distal arthrogryposis caused by MYH3 mutation
[J]. Laboratory Medicine, 2023, 38(2): 124-129.
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[8] |
WANG Xin, DENG Qian, WANG Juanjuan, CAI Wenjuan, GAO Jian, HAN Yanping, HU Kefei, CHEN Yuqing.
Clinical characteristics and genetic analysis of Desbuquois dysplasia Kim type caused by CANT1 mutation
[J]. Laboratory Medicine, 2023, 38(2): 130-136.
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[9] |
ZHANG Zhixiang, TIAN Hengfeng, HENG Erhu.
Genetic test and literature review in a child with congenital glycosylation disorder type Ⅰq
[J]. Laboratory Medicine, 2023, 38(2): 137-142.
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[10] |
YAN An, GUAN Xuhuizi, YU Tian, MIAO Gang, ZHAO Yanyang.
Identification of a new susceptibility gene variant EPB41L4A rs1455421289 in Chinese PTC patients by WES
[J]. Laboratory Medicine, 2023, 38(11): 1009-1014.
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[11] |
WEN Jing, SHI Rui, XIE Jia, LIU Feng, LI Guang, REN Jingjing, LEI Xiaoru, GUO Xiaobo, SONG Yanping.
Clinical application of metagenomic next-generation sequencing for determining pathogens in febrile neutropenic patients
[J]. Laboratory Medicine, 2022, 37(9): 855-859.
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[12] |
WANG Shichao, LIU Bin, ZHAO Xing, REN Xiaomin, PAN Yuanyuan, LI Xia, XU Shuying.
Mechanism of glioblastoma multiforme proliferation and invasion analyzed by whole-transcriptome sequencing
[J]. Laboratory Medicine, 2022, 37(8): 772-781.
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[13] |
WANG Juan, YU Jing, CHEN Jun, ZHENG Hong, DAI Liying.
Clinical characteristic and genetic variation analysis of compound heterozygous mutation of BCHE gene leading to neonatal butyrylcholinesterase deficiency
[J]. Laboratory Medicine, 2022, 37(7): 610-614.
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[14] |
LIU Yang, GENG Kunjing, LI Hongjiang, SHI Haoxi, CHEN Sisi.
Relationship of 25(OH)D3 and liver inflammatory stage with the efficacy of antiviral therapy
[J]. Laboratory Medicine, 2022, 37(7): 628-631.
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[15] |
YI Wei, PAN Yunhua, LIU Houchang, YU Chongfei, YANG Biqing, GE Shijun, LIN Keqin, CHU Jiayou, YANG Zhaoqing.
Application of whole exome sequencing in 9p deletion syndrome
[J]. Laboratory Medicine, 2022, 37(6): 539-542.
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