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Gene|May 20, 2018
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblingsRui Zhang, Siyuan Linpeng, Zhuo Li, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 1, 2016
[Analysis of CGG repeat instability in germline cells from two male fetuses affected with fragile X syndrome]Ranhui Duan, Shiyu Luo, Wen Huang, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|March 27, 2014
Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocationLinbei Deng, Ying Peng, Jing Liu, et al.
Molecular Medicine Reports|May 7, 2019
Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case reportChengzi Huang, Xigui Long, Can Peng, et al.
Molecular Therapy. Nucleic Acids|July 2, 2019
ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECsZhiqing Hu, Miaojin Zhou, Yong Wu, et al.
BMC Pregnancy and Childbirth|May 13, 2023
Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective studyXiying Yuan, Weinan Wang, Lei Dai, et al.
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.
BMC Medical Genetics|November 26, 2014
Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case reportShiyu Luo, Wen Huang, Qiuping Xia, et al.
Biosensors|June 2, 2021
Cas12a and Lateral Flow Strip-Based Test for Rapid and Ultrasensitive Detection of Spinal Muscular AtrophyChunhua Zhang, Zhuo Li, Miaomiao Chen, et al.
Analytica Chimica Acta|August 12, 2023
Rapid and sensitive Cas12a-based one-step nucleic acid detection with ssDNA-modified crRNAQinlong Zeng, Miaojin Zhou, Zhiqing Hu, et al.
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