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BMC Medical Genomics|June 12, 2026
Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosisYan Yu, Yimo Zeng, Yingdi Liu, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|August 11, 2018
Ectopic expression of factor VIII in MSCs and hepatocytes derived from rDNA targeted hESCsQianru Sun, Xionghao Liu, Yong Wu, et al.Biology|October 27, 2022
WDR73 Depletion Destabilizes PIP4K2C Activity and Impairs Focal Adhesion Formation in Galloway-Mowat SyndromeHongyan Li, Fang Liu, Hanzhe Kuang, et al.Cell Death and Differentiation|February 17, 2025
The LINC01315-encoded small protein YAPer-ORF competes with PRP4k to hijack YAP signaling to aberrantly promote cell growthZhu Xie, Chao Li, Rui Huang, et al.Cell Death & Disease|November 9, 2024
PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiationSiyi Chen, Jiali You, Xiaowei Zhou, et al.Biomed Research International|June 14, 2013
Nonviral gene targeting at rDNA locus of human mesenchymal stem cellsYoujin Hu, Xionghao Liu, Panpan Long, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|May 6, 2019
[Genetic diagnosis and non-invasive prenatal testing of a fetus with Prader-Willi/Angelman syndrome]Ming Gao, Hong Pang, Yulin Shi, et al.Journal of Human Genetics|April 20, 2007
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrumHao Hu, Lingqian Wu, Yong Feng, et al.The Journal of Clinical Endocrinology and Metabolism|May 14, 2013
Identification of microRNAs in human follicular fluid: characterization of microRNAs that govern steroidogenesis in vitro and are associated with polycystic ovary syndrome in vivoQing Sang, Zhongyuan Yao, Huan Wang, et al.BMC Medical Genetics|November 9, 2016
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndromeHu Tan, Libin Mei, Yanru Huang, et al.Pageof 20