Publications by authors named "Jiaming Xi"

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Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.
Chunmei Wang, Yilin Wang, Wuhen Xu, Xuefeng Lin, Jiaming Xi, Xiaona Luo, Xiaoyi Huang

Stem Cell Res· March 2022

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Mechanisms of Congenital Myasthenia Caused by Three Mutations in the Gene.
Xiaona Luo, Chunmei Wang, Longlong Lin, Fang Yuan, Simei Wang, Xiaoping Lan, Jiaming Xi, Xiaomin Sun

Front Pediatr· November 2021

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Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review.
Kai Chen, Na Zhang, Jing-Bo Shao, Hong Li, Jie Li, Jia-Ming Xi

Front Pediatr· August 2021

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Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency.
Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Xiaona Luo, Jiaming Xi, Xiaomin Sun

Stem Cell Res· May 2021

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Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the peripheral blood mononuclear cells of a 1-year-old Chinese girl with mediator complex subunit 12-related syndrome.
Yilin Wang, Fang Yuan, Anqi Wang, Chao Wang, Longlong Lin, Xiaona Luo, Xiaomin Sun, Jiaming Xi

Stem Cell Res· July 2020

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Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.
Anqi Wang, Jiaming Xi, Fang Yuan, Yilin Wang, Simei Wang, Xiaona Luo, Xiaomin Sun

Stem Cell Res· July 2020

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Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13.
Fang Yuan, Chunmei Wang, Jiaming Xi, Simei Wang, Longlong Lin, Xiaona Luo, Xiaomin Sun

Stem Cell Res· May 2020

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-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.
Chao Wang, Longlong Lin, Yan Xue, Yilin Wang, Zhao Liu, Xiaoping Lan, Xiaona Luo, Jiaming Xi, Xiaomin Sun

Front Genet· February 2020

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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
Kunfang Yang, Hongyi Cheng, Fang Yuan, Linyi Meng, Rongrong Yin, Jiaming Xi

Medicine (Baltimore)· April 2018

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Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
Kunfang Yang, Rongrong Yin, Xiaoping Lan, Yuanfeng Zhang, Hongyi Cheng, Jiaming Xi

Med Sci Monit· February 2018

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