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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 3, 2014
[Phenotype-genotype correlation analysis of 12 cases with Angelman/Prader-Willi syndrome]Chen Chen, Ying Peng, Yan Xia, et al.
Frontiers in Genetics|March 27, 2023
Correction of <i>F8</i> intron 1 inversion in hemophilia A patient-specific iPSCs by CRISPR/Cas9 mediated gene editingZhiqing Hu, Yong Wu, Rou Xiao, et al.
Medcomm|July 5, 2023
A protospacer adjacent motif-free, multiplexed, and quantitative nucleic acid detection platform with barcode-based Cas12a activityMiaojin Zhou, Chunhua Zhang, Miaomiao Chen, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|January 5, 2023
Chromosomal concordance between babies produced by the preimplantation genetic testing for aneuploidies and trophectoderm biopsies: A prospective observational studyZhongyuan Yao, Xiaoxia Wang, Jun Zeng, et al.
International Journal of Molecular Sciences|January 8, 2023
Novel Missense Variants in <i>PAX8</i> and <i>NKX2-1</i> Cause Congenital HypothyroidismMenglin Li, Zhuo Li, Miaomiao Chen, et al.
Biomed Research International|December 25, 2018
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in <i>OFD1</i>Siyuan Linpeng, Jing Liu, Jianyan Pan, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 17, 2016
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous familyChen Jiang, Nan Gai, Yongyi Zou, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 26, 2016
[Genetic diagnosis and analysis for two cases of ring chromosome 22]Ying Peng, Guizhi Tang, Rui Zhang, et al.
Molecular Genetics & Genomic Medicine|January 17, 2020
A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigreeYingdi Liu, Jinjie Xue, Zhuo Li, et al.
Gene|September 17, 2013
Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literatureZhuo Li, Jing Liu, Haoxian Li, et al.
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