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Clinica Chimica Acta; International Journal of Clinical Chemistry|April 2, 2020
Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndromeXuanyu Jiang, Yanling Teng, Xin Chen, et al.International Journal of Molecular Sciences|August 26, 2022
Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and CardiomyocytesRou Xiao, Miaojin Zhou, Peiyun Wang, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|May 30, 2012
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4pDesheng Liang, Zhongmin Zhou, Dahua Meng, et al.Molecular Genetics and Metabolism|November 23, 2011
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduriaJinjie Xue, Jing Peng, Mingxing Zhou, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|December 15, 2015
Clinical and molecular investigation in Chinese patients with glutaric aciduria type IYanghui Zhang, Haoxian Li, Ruiyu Ma, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|October 18, 2017
First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birthTonghua Wu, Biao Yin, Yuanchang Zhu, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 15, 2014
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome]Yanru Huang, Libin Mei, Wei Su, et al.Journal of Human Genetics|April 17, 2019
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndromeMing Lei, Satomi Mitsuhashi, Noriko Miyake, et al.Analytica Chimica Acta|May 21, 2024
Sensitive and visual detection of SARS-CoV-2 using RPA-Cas12a one-step assay with ssDNA-modified crRNAQinlong Zeng, Miaojin Zhou, Weiheng Deng, et al.Familial Cancer|February 11, 2017
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case reportHu Tan, Xianda Wei, Pu Yang, et al.Pageof 18