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Journal of Human Genetics|April 17, 2020
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4Ming Lei, Desheng Liang, Yifeng Yang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 30, 2015
[Establishment of hemophilia A patient-specific inducible pluripotent stem cells with urine cells]Zhiqing Hu, Xuyun Hu, Jialun Pang, et al.
Frontiers in Genetics|January 24, 2022
Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for <i>MMACHC</i> Gene MutationsWeigang Lv, Lili Liang, Xin Chen, et al.
Scientific Reports|March 22, 2017
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomaliesRuiyu Ma, Linbei Deng, Yan Xia, et al.
Oral Diseases|December 22, 2023
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia familiesQin Xing, Qimin Zhou, Hongyan Li, et al.
Gene|December 3, 2015
Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposisShujie Zhang, Haisong Qin, Weigang Lv, et al.
Molecular Genetics & Genomic Medicine|August 1, 2019
Molecular investigation in Chinese patients with primary carnitine deficiencyYanghui Zhang, Haoxian Li, Jing Liu, et al.
Gene|May 5, 2015
Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patientHaoxian Li, Yanghui Zhang, Xianda Wei, et al.
Journal of Assisted Reproduction and Genetics|February 4, 2025
A rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis after receiving oocyte donation and overcoming multiple pregnancy complicationsYingliu Luo, Xi Liao, Juan Wen, et al.
International Journal of Molecular Sciences|October 16, 2024
Mesenchymal Stem Cells Derived from Human Urine-Derived iPSCs Exhibit Low Immunogenicity and Reduced Immunomodulatory ProfilePeiyun Wang, Ying Zhang, Zhixing Li, et al.
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