Kuerbanjiang Abuduxikuer
6PUBLICATIONS
14CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Apr 14, 2025
Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis.Li Wang, Yi-Ling Qiu, Kuerbanjiang Abuduxikuer
|May 14, 2022
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.Zhong-Die Li, Kuerbanjiang Abuduxikuer, Li Wang
|Aug 20, 2020
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.Zhong Die Li, Kuerbanjiang Abuduxikuer, Jing Zhang
|Aug 02, 2020
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.Weisha Luan, Chen-Zhi Hao, Jia-Qi Li
|Jan 23, 2020
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.Kuerbanjiang Abuduxikuer, Lin Zou, Lei Wang
|Jan 16, 2019
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications.Kuerbanjiang Abuduxikuer, Rui Chen, Zhong-Lin Wang
Pageof 1
Frequent Collaborators
4 joint publications
Yi-Ling Qiu
3 joint publications
Zhong-Die Li
3 joint publications
Yi Lu
3 joint publications
Jian-She Wang
2 joint publications
Jing Zhang
2 joint publications
Li Wang
2 joint publications
Xin-Bao Xie
1 joint publications
Weisha Luan
1 joint publications
Chen-Zhi Hao
1 joint publications
Meng-Xuan Wang
