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CORC

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Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature 期刊论文
FRONTIERS IN ENDOCRINOLOGY, 2019, 卷号: 10
作者:  Abuduxikuer, Kuerbanjiang;  Li, Zhong-Die;  Xie, Xin-Bao;  Li, Yu-Chuan;  Zhao, Jing
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/05
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications 期刊论文
BMC PEDIATRICS, 2019, 卷号: 19
作者:  Abuduxikuer, Kuerbanjiang;  Chen, Rui;  Wang, Zhong-Lin;  Wang, Jian-She
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature 期刊论文
WORLD JOURNAL OF GASTROENTEROLOGY, 2018, 卷号: 24, 期号: 36
作者:  Abuduxikuer, Kuerbanjiang;  Feng, Jia-Yan;  Lu, Yi;  Xie, Xin-Bao;  Chen, Lian
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/05
UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children A retrospective analysis and quantitative correlation 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 49
作者:  Abuduxikuer, Kuerbanjiang;  Fang, Ling-Juan;  Li, Li-Ting;  Gong, Jing-Yu;  Wang, Jian-She
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report 期刊论文
BMC GASTROENTEROLOGY, 2018, 卷号: 18
作者:  Li, Jia-Qi;  Xie, Xin-Bao;  Feng, Jia-Yan;  Chen, Lian;  Abuduxikuer, Kuerbanjiang
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene 期刊论文
ONCOTARGET, 2017, 卷号: 8, 期号: 48
作者:  Fang, Weiyuan;  Song, Peng;  Xie, Xinbao;  Wang, Jianshe;  Lu, Yi
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
De novo JAG1 gene deletion causes atypical severe alagille syndrome in a Chinese child 期刊论文
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2017, 卷号: 10, 期号: 4
作者:  Fang, Weiyuan;  Lu, Yi;  Abuduxikuer, Kuerbanjiang;  Wu, Bingbing;  Wang, Jianshe
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency 期刊论文
PLOS ONE, 2016, 卷号: 11, 期号: 4
作者:  Wang, Neng-Li;  Li, Li-Ting;  Wu, Bing-Bing;  Gong, Jing-Yu;  Abuduxikuer, Kuerbanjiang
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05
Wilson disease with hepatic presentation in an eight-month-old boy 期刊论文
WORLD JOURNAL OF GASTROENTEROLOGY, 2015, 卷号: 21, 期号: 29
作者:  Abuduxikuer, Kuerbanjiang;  Li, Li-Ting;  Qiu, Yi-Ling;  Wang, Neng-Li;  Wang, Jian-She
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome 期刊论文
PLOS ONE, 2015, 卷号: 10, 期号: 6
作者:  Li, Liting;  Dong, Jibin;  Wang, Xiaohong;  Guo, Hongmei;  Wang, Huijun
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/19

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