[1] |
JIAO Feng, DUAN Li-fen, LI Li, et al.
Analysis of clinical phenotype and gene mutation in one case of muscle-eye-brain disease with new POMGNT1 mutation
[J]. Chinese Journal of Practical Pediatrics, 2022, 37(4): 313-316.
|
[2] |
WANG Chun-hui, GAO Zhi-bo, LAN Li, et al.
One case report of hereditary pancreatitis in children
[J]. Chinese Journal of Practical Pediatrics, 2022, 37(2): 157-160.
|
[3] |
JIN Meng, MA Xin, ZHU Dan, et al.
Report on one case of infantile liver failure syndrome due to NBAS gene mutation
[J]. Chinese Journal of Practical Pediatrics, 2022, 37(1): 77-80.
|
[4] |
WANG Yi,GONG Chun-xiu.
One case report of Meier-Gorlin syndrome caused by CDC45 mutation
[J]. CJPP, 2021, 36(6): 478-480.
|
[5] |
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.
|
[6] |
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.
|
[7] |
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.
|
[8] |
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.
|
[9] |
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.
|
[10] |
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.
|
[11] |
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.
|
[12] |
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.
|
[13] |
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.
|
[14] |
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.
|
[15] |
ZHANG Yan-min.
Research progress in genetics of hypertrophic cardiomyopathy in children
[J]. CJPP, 2019, 34(5): 362-367.
|