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Human Genomics|September 5, 2024
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotypeLiena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, Ashwaq Mohammed Alqarni, et al.
Human Genomics|July 19, 2024
Targeted panel sequencing of pharmacogenes and oncodrivers in colorectal cancer patients reveals genes with prognostic significanceLucie Heczko, Václav Liška, Ondřej Vyčítal, et al.
Human Genomics|August 1, 2024
Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterolJamil Alenbawi, Yasser A Al-Sarraj, Umm-Kulthum I Umlai, et al.
Human Genomics|July 19, 2024
A qualitative approach to assess the opinion of physicians about the challenges and prospects of pharmacogenomic testing implementation in clinical practice in GreeceMargarita-Ioanna Koufaki, George P Patrinos, Konstantinos Z Vasileiou
Human Genomics|July 3, 2024
A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese familyLuping Zhang, Danya Zheng, Lian Xu, et al.
Human Genomics|July 3, 2024
Unveiling the molecular landscape of cognitive aging: insights from polygenic risk scores, DNA methylation, and gene expressionSonya Neto, Andreia Reis, Miguel Pinheiro, et al.
Human Genomics|July 3, 2024
The cuproptosis-related signature predicts the prognosis and immune microenvironments of primary diffuse gliomas: a comprehensive analysisTao Chang, Yihan Wu, Xiaodong Niu, et al.
Human Genomics|July 3, 2024
Association of lipid-lowering drugs with risk of sarcopenia: a drug target mendelian randomization study and meta-analysisJiaxin Li, Chenyang Zang, Hui Lv, et al.
Human Genomics|July 8, 2024
An investigation of the molecular characterization of the tripartite motif (TRIM) family and primary validation of TRIM31 in gastric cancerYixin Ding, Yangyang Lu, Jing Guo, et al.
Human Genomics|July 10, 2024
Pharmacogenetics in Italy: current landscape and future prospectsMatteo Floris, Antonino Moschella, Myriam Alcalay, et al.
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