Zhong‐Die Li

<i>TJP2</i> hepatobiliary disorders: Novel variants and clinical diversity

Jing Zhang, Lang‐Li Liu, Jing‐Yu Gong et al. · Human Mutation · 2019 · 37 citations

Medicine, Genetics, Pediatrics +17

Biallelic loss-of-function <i>ZFYVE19</i> mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

Weisha Luan, Chenzhi Hao, Jiaqi Li et al. · Journal of Medical Genetics · 2020 · 35 citations

Medicine, Genetics, Molecular Genetics +17

<i>NBAS</i> disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

Zhong‐Die Li, Kuerbanjiang Abuduxikuer, Jing Zhang et al. · Hepatology Research · 2020 · 20 citations

Life Sciences, Genetics, Molecular Genetics +16

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

Liting Li, Zhong‐Die Li, Ye Yang et al. · Liver International · 2020 · 17 citations

Medicine, Genetics, Pediatrics +17

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Kuerbanjiang Abuduxikuer, Zhong‐Die Li, Xin‐Bao Xie et al. · Frontiers in Endocrinology · 2019 · 16 citations · Full text

Medicine, Endocrinology, Genetics +17