Yongjia Yang

Years Active: 2019-2024
Publications (10 Years): 6

School of Life Sciences (MSC)

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

Education History

School of Life Sciences Sep 01 2004 - Jul 01 2008

China

MSC :: Central South University

Publications

Fang Shen, Hongmei Zhao, Mei Deng, Ming Tu, Yuan Hu, Hua Wang, Yongjia Yang
Familial pancreatitis associated with a splice-site variant in CPA1 . Gut (2024)
Xiaojun Duan, Fang Shen, Yafei Deng, Jin Zhang, Fan Fang, Zhenqing Luo, Yanping Chen, Yongjia Yang
Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E. Journal of clinical immunology (2022)
Juan Liu, Yu Zheng, Jiaotian Huang, Desheng Zhu, Ping Zang, Zhenqing Luo, Yongjia Yang, Yu Peng, Zhenghui Xiao, Yimin Zhu, Xiulan Lu
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit. Human mutation 42 (11) (2021)
Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis. Molecular genetics & genomic medicine 10 (1) (2021)
Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms. BMC medical genetics 20 (1) (2019)
Yongjia Yang, Yu Zheng, Wangming Li, Liping Li, Ming Tu, Liu Zhao, Hai-Bo Mei, Guanghui Zhu, Yimin Zhu
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)

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