A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

por Wang, Yan-gong, Sun, Shu-ping, Qiu, Yi-ling, Xing, Qing-he, Lu, Wei
Publicado 2018

Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low‐Gamma‐Glutamyltransferase Cholestasis

por van IJzendoorn, Sven C.D., Li, Qinghong, Qiu, Yi‐ling, Wang, Jian‐She, Overeem, Arend W.
Publicado 2020

Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients

por Liu, Teng, Wang, Ren-Xue, Han, Jun, Qiu, Yi-Ling, Borchers, Christoph H., Ling, Victor, Wang, Jian-She
Publicado 2020

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

por Li, Jia-Qi, Qiu, Yi-Ling, Gong, Jing-Yu, Dou, Li-Min, Lu, Yi, Knisely, A. S., Zhang, Mei-Hong, Luan, Wei-Sha, Wang, Jian-She
Publicado 2017

A Molecular Mechanism Underlying Genotype‐Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations

por Overeem, Arend W., Li, Qinghong, Qiu, Yi‐Ling, Cartón‐García, Fernando, Leng, Changsen, Klappe, Karin, Dronkers, Just, Hsiao, Nai‐Hua, Wang, Jian‐She, Arango, Diego, van Ijzendoorn, Sven C.D.
Publicado 2020

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

por Wang, Neng-Li, Lu, Yu-Lan, Zhang, Ping, Zhang, Mei-Hong, Gong, Jing-Yu, Lu, Yi, Xie, Xin-Bao, Qiu, Yi-Ling, Yan, Yan-Yan, Wu, Bing-bing, Wang, Jian-She
Publicado 2016

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices

por Fang, Wei-Yuan, Abuduxikuer, Kuerbanjiang, Shi, Peng, Qiu, Yi-Ling, Zhao, Jing, Li, Yu-Chuan, Zhang, Xue-Yuan, Wang, Neng-Li, Xie, Xin-Bao, Lu, Yi, Knisely, A S, Wang, Jian-She
Publicado 2021

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

por Qiu, Yi‐Ling, Gong, Jing‐Yu, Feng, Jia‐Yan, Wang, Ren‐Xue, Han, Jun, Liu, Teng, Lu, Yi, Li, Li‐Ting, Zhang, Mei‐Hong, Sheps, Jonathan A., Wang, Neng‐Li, Yan, Yan‐Yan, Li, Jia‐Qi, Chen, Lian, Borchers, Christoph H., Sipos, Bence, Knisely, A.S., Ling, Victor, Xing, Qing‐He, Wang, Jian‐She
Publicado 2017