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American Journal of Medical Genetics. Part A|July 29, 2023
Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disordersYan Dong, Weiran Li, Jing Meng, et al.Frontiers in Genetics|April 18, 2022
Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes DiseaseXiufang Zhi, Qi Ai, Wenchao Sheng, et al.Frontiers in Pediatrics|March 10, 2022
Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene VariantJianbo Shu, Xiufang Zhi, Jing Chen, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 3, 2021
[Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant]Long Gao, Ping Wang, Mingying Zhang, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 5, 2018
[Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency]Jianbo Shu, Bei Sun, Chao Wang, et al.Frontiers in Pediatrics|February 28, 2022
Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese FamilyDandan Yan, Shaopei Chen, Fengying Cai, et al.Molecular Genetics and Metabolism|November 23, 2025
Experimental insights into MMACHC variants using a novel minigene systemYan Dong, Xiaowei Xu, Weiran Li, et al.Gene|November 21, 2024
RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing eventsWeiran Li, Ximeng Ma, Yuanyuan Sun, et al.BMC Pediatrics|May 22, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center studyRuiping Zhang, Xiaoyu Cui, Yan Zhang, et al.Journal of Clinical Laboratory Analysis|December 3, 2021
Clinical study of autoantibodies in type 1 diabetes mellitus children with ketoacidosis or microalbuminuriaMingying Zhang, Xinhui Wang, Rui Wang, et al.Pageof 8