Zoekresultaten - Bixia Zheng

Wnt/β-Catenin Signaling and Congenital Abnormalities of Kidney and Urinary Tract door Cuicui Yu, Bixia Zheng, Luyan Zhang, Aihua Zhang, Zhanjun Jia, Guixia Ding

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Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant door Yeqing Yuan, Qiaoli Zhou, Chunli Wang, Wei Zhou, Wei Gu, Bixia Zheng

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A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report door Guorui Hu, Jingxia Zeng, Chunli Wang, Wei Zhou, Zhanjun Jia, Jun Yang, Bixia Zheng

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Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases door Fen Lu, Xin Xu, Bixia Zheng, Chunli Wang, Wei Zhou, Jian Tang, Xiaoke Zhao

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Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia door Jiayu Song, Juan Lei, Jianxia Zhang, Aiqing Zhang, Weihua Gan, Bixia Zheng, Chunli Wang, Jing Gong

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Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency door Qiaoli Zhou, Dandan Wang, Chunli Wang, Bixia Zheng, Qianqi Liu, Ziyang Zhu, Zhanjun Jia, Wei Gu

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The application research of xTAG GPP multiplex PCR in the diagnosis of persistent and chronic diarrhea in children door Chunli Wang, Xiaoying Zhou, Mengshu Zhu, Hanjun Yin, Jiamei Tang, Yan Huang, Bixia Zheng, Yu Jin, Zhifeng Liu

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Eosinophilic colitis in a boy with a novel XIAP mutation: a case report door Jiamei Tang, Xiaoying Zhou, Lan Wang, Guorui Hu, Bixia Zheng, Chunli Wang, Yan Lu, Yu Jin, Hongmei Guo, Zhifeng Liu

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A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1 door Ruochen Che, Chunli Wang, Bixia Zheng, Xuejuan Zhang, Guixia Ding, Fei Zhao, Zhanjun Jia, Aihua Zhang, Songming Huang, Quancheng Feng

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Monogenic Causes Identified in 23.68% of Children with Steroid Resistant Nephrotic Syndrome: A Single-Centre Study door Luyan Zhang, Fei Zhao, Guixia Ding, Ying Chen, Sanlong Zhao, Qiuxia Chen, Yugen Sha, Ruochen Che, Songming Huang, Bixia Zheng, Aihua Zhang

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