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WANG Yi,GONG Chun-xiu.
One case report of Meier-Gorlin syndrome caused by CDC45 mutation
[J]. CJPP, 2021, 36(6): 478-480.
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SONG Xue-rui,ZHAO Xiao-dong,AN Yun-fei.
Research progress in the diseases caused by NBAS gene mutation
[J]. CJPP, 2021, 36(3): 227-230.
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GAO Yang-jie,YANG Xue-fang,ZHAO Zhi-peng,et al.
Interstitial lung diasese due to homozygous mutation of ABCA3 gene uniparental disomy in children: one case report
[J]. CJPP, 2021, 36(3): 235-237.
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Detection and clinical analysis of drug-resistant mutation sites in children with Mycoplasma infectious lobar pneumonia
[J]. CJPP, 2020, 35(8): 626-630.
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SHEN Ling-hua,WU Sheng-nan,WANG Hui-zhen,et al.
One case report on mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
[J]. CJPP, 2020, 35(6): 493-496.
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WEI Qi-jiao,WANG Wei,WANG Chang-yan,et al.
Clinical features and gene analysis of Mendelian susceptibility to mycobacterial disease due to mutations in IL-12RB1 in two children
[J]. CJPP, 2020, 35(4): 307-310.
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LI Xue-song,SHU Sai-nan,HUANG Zhi-hua.
Progress in the diagnosis and treatment of progressive familial intrahepatic cholestasis
[J]. CJPP, 2020, 35(4): 319-323.
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WU Sheng-nan,CHEN Qiong,CHEN Yong-xing,et al.
Analysis of clinical data of 158 patients with methylmalonic acidemia in Children’s Hospital Affiliated to Zhengzhou University
[J]. CJPP, 2020, 35(3): 228-232.
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LU Fen,ZHU Min,ZHANG Yue,et al.
Wolf-Hirschhorn syndrome:A report of 4 cases and literature review
[J]. CJPP, 2020, 35(1): 39-43.
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CHEN Xue-mei,XU Qi-ling,AN Yun-fei,et al.
Research progress in primary immunodeficiency disease caused by STAT1 gene mutation
[J]. CJPP, 2019, 34(7): 599-601.
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ZHANG Xiao-jian,FENG Song,CHEN Xiao-guang,et al.
Progress in etiology of hypertrophic cardiomyopathy in children
[J]. CJPP, 2019, 34(5): 347-352.
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[12] |
ZHANG Yan-min.
Research progress in genetics of hypertrophic cardiomyopathy in children
[J]. CJPP, 2019, 34(5): 362-367.
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WANG Xian-zhu,LI Jiu-jun.
Risk factors of purulent meningitis complicated with subdural effusion in infants and young children
[J]. CJPP, 2019, 34(5): 410-413.
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SHEN Wen-wen, ZHANG Li-ping,HAO Jie,et al.
Analysis of diagnosis of 5 children with suspected neuronal ceroid lipofuscinosis
[J]. CJPP, 2019, 34(1): 41-45.
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Nuerya Rejiafu*,ZHANG Hui,SU Ya-jie,et al.
Analysis of UGT1A1 gene mutation in Uygur neonates with unconjugated hyperbilirubinemia
[J]. CJPP, 2018, 33(5): 349-352.
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