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Molecular Biology Reports|April 10, 2024
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxaYing Zhang, Mei Sun, Na Li, et al.
Experimental and Therapeutic Medicine|August 29, 2020
A novel SPTB gene mutation in neonatal hereditary spherocytosis: A case reportYang Liu, Jie Zheng, Li Song, et al.
Experimental and Therapeutic Medicine|March 11, 2021
Rapid screening of UPB1 gene variations by high resolution melting curve analysisXiaowei Xu, Jie Zheng, Qianqian Zou, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 14, 2019
[Genetic analysis of one family with congenital limb malformations]Fengying Cai, Jijun Ma, Rui Pan, et al.
Frontiers in Pediatrics|March 7, 2022
Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers-Danlos SyndromeXiaodan Yan, Jianbo Shu, Yanyan Nie, et al.
Molecular Genetics & Genomic Medicine|May 19, 2023
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature reviewYan Xue, Yiran Zhao, Bo Wu, et al.
Gene|May 23, 2024
A rare ACAN non-canonical splicing-site intron variant results in familial short statureXiaowei Xu, Xinjie Zhang, Mingying Zhang, et al.
Biochemical Genetics|September 23, 2023
Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 VariantsXiangyu Liu, Meifang Lei, Yan Xue, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|January 25, 2022
[Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency]Dandan Yan, Xiaowei Xu, Xuetao Wang, et al.
Global Medical Genetics|January 17, 2024
Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain SyndromeMei Sun, Qing Li, Ying Zhang, et al.
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