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Human Gene Therapy|March 31, 2018
Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem CellsMiaojin Zhou, Zhiqing Hu, Liyan Qiu, et al.Biochemical and Biophysical Research Communications|February 28, 2016
Targeting of the human F8 at the multicopy rDNA locus in Hemophilia A patient-derived iPSCs using TALENickasesJialun Pang, Yong Wu, Zhuo Li, et al.Cell Reports|November 19, 2023
A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorderHanzhe Kuang, Yunlong Li, Yixuan Wang, et al.Human Genetics|January 4, 2021
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosisXin Chen, Wu Yin, Siyi Chen, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 5, 2020
[Clinical practice guidelines for spinal muscular atrophy]Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Jianyan Pan, Hu Tan, et al.Science Advances|June 17, 2026
Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorderLu Xia, Hailiang Guo, Ruiting Liu, et al.Pageof 4