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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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WU Bing-xia*，ZHANG Li，ZHANG Wei，et al.
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 Yan-min.
Research progress in genetics of hypertrophic cardiomyopathy in children
[J]. CJPP, 2019, 34(5): 362-367.
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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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ZHAO Ning-ning，DONG Guan-ping，WU Wei，et al.
Maturity-onset diabetes of the young type 6 with a novel NEUROD1 mutation：A case of report
[J]. CJPP, 2019, 34(5): 438-441.
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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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