Search Results - Haiming Yuan

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    Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1 by Qingming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Yanhui Liu, Haiming Yuan

    Published 2020
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    Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia by Haiming Yuan, Qingming Wang, Yufeng Li, Shuangxi Cheng, Jianxin Liu, Yanhui Liu

    Published 2020
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    Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3 by Fang Zhang, Hongmei Guo, Xinlong Zhou, Zhengxi Deng, Qiuhong Xu, Qingming Wang, Haiming Yuan, Jianhua Luo

    Published 2024
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    Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene by Manna Sun, Jiwu Lou, Qiaoyi Li, Jianhong Chen, Yujuan Li, Dongzhi Li, Haiming Yuan, Yanhui Liu

    Published 2019
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