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Bioinformatics (Oxford, England)|May 5, 2026
AXOLOTL: an accurate method for detecting aberrant gene expression in rare diseases using coexpression constraintsWenjian Xu, Yansheng Shen, Xiangfu Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|April 29, 2024
[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene]Haizhen Fan, Yanmei Wang, Yunhong Wu, et al.
Frontiers in Genetics|July 20, 2023
Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsyYan Hu, Mingwei Huang, Jialun Wen, et al.
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