Search Results - Minna Luo

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    A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome by Yue Shen, Chao Lu, Tingting Cheng, Zongfu Cao, Cuixia Chen, Xu Ma, Huafang Gao, Minna Luo

    Published 2023
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    Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome by Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma

    Published 2020
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