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European Journal of Medical Genetics|June 24, 2019
Molecular genetic study of 59 Chinese Oculocutaneous albinism familiesDan Luo, Siyuan Linpeng, Lanlan Zeng, et al.Clinical Genetics|May 4, 2021
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort studyLi Zhang, Lijuan Pan, Yanling Teng, et al.International Journal of Molecular Sciences|January 21, 2022
Ectopic Expression of FVIII in HPCs and MSCs Derived from hiPSCs with Site-Specific Integration of <i>ITGA2B</i> Promoter-Driven <i>BDDF8</i> Gene in Hemophilia AJunya Zhao, Miaojin Zhou, Zujia Wang, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|May 31, 2022
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese familiesJianyan Pan, Shanshan Ma, Yanling Teng, et al.Human Genome Variation|April 16, 2016
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndromeHu Tan, Pu Yang, Haoxian Li, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|December 27, 2019
The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathyMeizhen Shi, Xin Chen, Lanlan Zeng, et al.Journal of Human Genetics|April 29, 2018
Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature reviewHu Tan, Xin Chen, Weigang Lv, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|July 6, 2013
An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic motherLingqian Wu, Jing Liu, Weigang Lv, et al.Brain Sciences|April 3, 2021
Behavioral and Gene Expression Analysis of Stxbp6-Knockout MiceCong Liu, Qian Hu, Yan Chen, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 8, 2015
[Application of next-generation DNA sequencing for prenatal testing of fetal chromosomal aneuploidies]Jing Liu, Hua Wang, Hui Xi, et al.Pageof 20