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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 29, 2021
[Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)]Xiaoli Chen, Shaofang Shangguan, Hua Xie, et al.American Journal of Human Genetics|March 12, 2013
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVsXiaoli Chen, Yiping Shen, Feng Zhang, et al.Plos One|April 18, 2012
High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disabilityXiaohong Gong, Yu-Wu Jiang, Xin Zhang, et al.Journal of Developmental and Behavioral Pediatrics : JDBP|July 9, 2010
Cognitive and behavioral characterization of 16p11.2 deletion syndromeEllen Hanson, Ramzi H Nasir, Alexa Fong, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|March 25, 2015
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short statureJian Wang, Zhigang Wang, Yu An, et al.Translational Psychiatry|June 20, 2026
Impact of NRSN2 deficiency on memory: Altered excitatory synaptic plasticity associated with reduced expression of NMDA receptor subunits and impaired LTP in the hippocampusJialu Wei, Yongkang Wu, Yuan Yi, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|July 20, 2010
Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control studyXiaoli Chen, Jin Guo, Yunping Lei, et al.International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|October 23, 2012
GAP-43 dependency defines distinct effects of netrin-1 on cortical and spinal neurite outgrowth and directional guidanceYiping Shen, Karina MeiriZhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 5, 2022
[A large-scale retrospective analysis of copy number variations in single center using ACMG-ClinGen latest guidelines]Yuxin Zhang, Jiangyang Xue, Lulu Yan, et al.Reproductive Biomedicine Online|June 11, 2014
Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failureYuqin Ye, Xiaoping Lan, Jin Cong, et al.Pageof 164