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European Journal of Medical Genetics|November 10, 2025
Are NONO variants linked to congenital heart disease? Patient reports and reviewPeiqing He, Sini Zou, Jianxiong Chen, et al.
Molecular Genetics and Genomics : MGG|January 4, 2020
Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α<sup>0</sup>-thalassemia by targeted next-generation sequencingZhiming Li, Xuan Shang, Shiqiang Luo, et al.
Molecular Medicine Reports|December 8, 2021
Analysis of a family with mitochondrial trifunctional protein deficiency caused by <i>HADHA</i> gene mutationsJinling Yang, Dejian Yuan, Xiaohui Tan, et al.
Hematology (Amsterdam, Netherlands)|July 29, 2020
Analysis of rare thalassemia caused by HS-40 regulatory site deletionShiqiang Luo, Xingyuan Chen, Qingyan Zhong, et al.
Pharmacogenomics and Personalized Medicine|April 28, 2025
Novel <i>SLC16A2</i> Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier ScreeningPeng Lin, Huituan Liu, Jiwu Lou, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 9, 2019
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II]Jianqiang Tan, Lizhen Pan, Jun Huang, et al.
Haematologica|October 5, 2006
Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutationsTizhen Yan, Ren Cai, OiuHua Mo, et al.
Data in Brief|July 11, 2026
Metabolomic data of melittin-intervened murine cervical cancer cells based on liquid chromatography-mass spectrometryJianrong Jiang, Yaqin Gao, Mengyi Wang, et al.
Frontiers in Genetics|August 10, 2021
A Novel Multi-Exon Deletion of <i>PACS1</i> in a Three-Generation Pedigree: Supplements to <i>PACS1</i> Neurodevelopmental Disorder SpectrumYuan Liu, Hongke Ding, Tizhen Yan, et al.
Clinical Chemistry|February 25, 2026
A Digital PCR Assay for Fetal Fraction Quantification Using Multiplex SNP and Y Chromosome DetectionChianru Tan, Peng Dai, Zhuoyu Zhao, et al.
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