Kuerbanjiang Abuduxikuer (Jian-She Wang)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 5

Top Topics

Autism Spectrum Disorder

Molecular Docking

Candida Albicans

Intellectual Disability

Top Venues

Liver international : official journal of the International Association for the Study of the Liver

Journal of medical genetics

Hepatology research : the official journal of the Japan Society of Hepatology

This page only lists publications with an associated author ORCID identifier.

Publications

Zhong-Die Li, Kuerbanjiang Abuduxikuer, Li Wang, Chen-Zhi Hao, Jing Zhang, Meng-Xuan Wang, Li-Ting Li, Yi-Ling Qiu, Xin-Bao Xie, Yi Lu, Jian-She Wang
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients. Liver international : official journal of the International Association for the Study of the Liver 42 (8) (2022)
Kuerbanjiang Abuduxikuer, Lin Zou, Lei Wang, Li Chen, Jian-She Wang
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. Journal of human genetics 65 (4) (2020)
Weisha Luan, Chen-Zhi Hao, Jia-Qi Li, Qing Wei, Jing-Yu Gong, Yi-Ling Qiu, Yi Lu, Cong-Huan Shen, Qiang Xia, Xin-Bao Xie, Mei-Hong Zhang, Kuerbanjiang Abuduxikuer, Zhong-Die Li, Li Wang, Qing-He Xing, A S Knisely, Jian-She Wang
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. Journal of medical genetics 58 (8) (2020)
Zhong-Die Li, Kuerbanjiang Abuduxikuer, Jing Zhang, Ye Yang, Yi-Ling Qiu, Yuge Huang, Xin-Bao Xie, Yi Lu, Jian-She Wang
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients. Hepatology research : the official journal of the Japan Society of Hepatology 50 (11) (2020)
Kuerbanjiang Abuduxikuer, Rui Chen, Zhong-Lin Wang, Kuerbanjiang Abuduxikuer
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications. BMC pediatrics 19 (1) (2019)