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Journal of Human Genetics|May 15, 2015
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathyRuolan Guo, Guosheng Zhu, Huimin Zhu, et al.
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.
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 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.
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.
Frontiers in Pediatrics|August 18, 2023
A <i>de novo</i> heterozygous <i>POU3F3</i> genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literatureHongyun Zhang, Siyuan Linpeng, Yanling Teng, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 19, 2015
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type IIILibin Mei, Yanru Huang, Qian Pan, et al.
International Heart Journal|August 14, 2018
Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and DissectionsYingxi Cao, Hu Tan, Zhuo Li, et al.
Molecular Pharmaceutics|May 7, 2015
Enhance Cancer Cell Recognition and Overcome Drug Resistance Using Hyaluronic Acid and α-Tocopheryl Succinate Based Multifunctional NanoparticlesDesheng Liang, Ai-Ting Wang, Zhen-Zhen Yang, et al.
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