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Orphanet Journal of Rare Diseases|December 2, 2024
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutationsYue Xu, Xuemeng Liu, Yang Liu, et al.Human Genomics|July 29, 2024
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in ChinaShiying Ling, Shengnan Wu, Ruixue Shuai, et al.Frontiers in Genetics|March 4, 2022
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn ScreeningShiying Ling, Shengnan Wu, Ruixue Shuai, et al.Journal of Medical Genetics|June 14, 2023
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese casesLili Liang, Shiying Ling, Yue Yu, et al.Nature Communications|May 20, 2020
Somatic SF3B1 hotspot mutation in prolactinomasChuzhong Li, Weiyan Xie, Jared S Rosenblum, et al.Pageof 2