Publications by authors named "Guiling Mo"

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Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b.
Shuang Zhao, Guiling Mo, Qiang Wang, Jin Xu, Shihui Yu

Cell Death Discov· April 2024

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A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.
Fei Qiao, Feng Ren, Weiting Lu, Haoran Yang, Guiling Mo

BMC Med Genomics· July 2023

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Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
Yuanxiang Hu, Weihao Li, Ninglin Kang, Liyan Ma, Qing Teng, Guiling Mo

Clin Genet· January 2022

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Functional Verification of Novel Variants by Live Imaging in Zebrafish.
Rongtao Xue, Ying Wang, Tienan Wang, Mei Lyu, Guiling Mo

Front Cell Dev Biol· December 2021

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In-depth understanding of Pearson syndrome arising from a novel large mitochondrial DNA deletion in an infant case.
Rui Liu, Gui-Ling Mo, Yuan-Zong Song

Transl Pediatr· July 2021

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Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report.
Rui Liu, Gui-Ling Mo, Yuan-Zong Song

Transl Pediatr· January 2021

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Co-occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades.
Chao Wu, Qiong Cai, Huajing You, Xiangxue Zhou, Dingbang Chen, Guiling Mo

Mol Genet Genomic Med· June 2019

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[Clinical and variation analysis of three Chinese families affected with glutaric acidemia type 1].
Xiaorong Shi, Zhonglin Ke, Aidong Zheng, Wenhuang Xie, Guiling Mo

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· December 2018

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[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].
Xiaorong Shi, Xi Lin, Zhonglin Ke, Shuqing Chen, Bin Wu, Guiling Mo

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· April 2017

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A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
Jun Lu, Guiling Mo, Yaojun Ling, Lijuan Ji

Mol Med Rep· October 2016

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[Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].
Xiaorong Shi, Zhongling Ke, Aidong Zheng, Wenhuang Xie, Guiling Mo

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· October 2014

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[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation].
Xiangdong Kong, Guiling Mo, Ning Liu, Peichao Tian, Minfang Chen

Zhonghua Yi Xue Za Zhi· May 2014

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Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments.
Zong-Ping Mo, Chang-Shun Yu, Ya-Juan Li, Wei-xi Cao, Zheng-Yu Zeng, Gui-ling Mo

Clin Chem Lab Med· December 2011

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