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Molecular Genetics & Genomic Medicine|June 16, 2025
Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of FallotDandan Ling, Wanqin Xie, Xiao Mao, et al.Molecular Genetics & Genomic Medicine|April 8, 2025
Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature ReviewShaoxin Li, Hui Fang, Hong Li, et al.Molecular Genetics & Genomic Medicine|April 26, 2025
Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion SyndromeMeiying Cai, Na Lin, Xuemei Chen, et al.Molecular Genetics & Genomic Medicine|April 18, 2025
Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation LevelsLiwei Shen, Xiaofei Ye, Xiaocui Wang, et al.Molecular Genetics & Genomic Medicine|April 30, 2025
Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception ContextCaixia Hu, Lulu Zhai, Hailian WangMolecular Genetics & Genomic Medicine|June 16, 2023
Genome-wide meta-analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han populationYafen Yu, Qi Zhen, Weiwei Chen, et al.Molecular Genetics & Genomic Medicine|June 18, 2023
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delayDong Wang, Jin WuMolecular Genetics & Genomic Medicine|June 8, 2023
Clinical features and underlying mechanisms of KAT6B disease in a Chinese boyXiaoang Sun, Xiaona Luo, Longlong Lin, et al.Molecular Genetics & Genomic Medicine|June 5, 2023
A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature reviewChang Li, Ya Wen, Mengqiu Zhao, et al.Molecular Genetics & Genomic Medicine|March 4, 2026
Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and SeizuresMengmeng Niu, Dong Wang, Shanshan JiaPageof 252