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BMC Medical Genomics|January 31, 2020
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA geneRobin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, et al.
BMC Medical Genomics|May 7, 2026
Characterizing core outcomes of responsible stewardship for human genomic data in the cloudVasiliki Rahimzadeh, Bronwyn Walsh, Heidi L Rehm, et al.
BMC Medical Genomics|August 14, 2026
Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndromeXin Xu, Hong Xu, Songming Huang, et al.
BMC Medical Genomics|August 8, 2026
A real-time PCR-based noninvasive prenatal RHD screening assay optimized for population-specific RHD allelic spectra in ChinaXiang Wei, Linzhi Jiang, Qian Zhu
BMC Medical Genomics|June 5, 2025
Chromosomal instability by low-coverage whole-genome sequencing assay predicts prognosis in bladder cancer patients underwent radical cystectomyQi Ding, Hailiang Zhu, Bo Fan, et al.
BMC Medical Genomics|June 2, 2025
Influence of genetic factors of humans, mosquitoes and parasites, on the evolution of Plasmodium falciparum infections, malaria transmission and genetic control methods: a review of the literatureSeni Nikiema, Issiaka Soulama, Gifty Dufie Ampofo, et al.
BMC Medical Genomics|October 23, 2026
Genetic polymorphisms and hypertension in Indian populations: a systematic review and integrative bioinformatics approachRooban Sivakumar, Prasath N, Lakshmi Vijukumar, et al.
BMC Medical Genomics|October 23, 2026
Genetic evidence linking the promoter region and 5'-UTR deletion of GNAS with pseudohypoparathyroidism type 1 CChung Lee, Yoon Ji Ahn, Sung-Chul Jung, et al.
BMC Medical Genomics|October 30, 2026
Identification of glutathione metabolism-related biomarkers in non-alcoholic fatty liver disease based on single-cell and bulk RNA sequencingYinan Zhao, Guoying Yu, Lu Zhao
BMC Medical Genomics|October 30, 2026
Haplotype-based non-invasive prenatal testing of F8 complex rearrangement via targeted capture sequencing of maternal plasmaYuxin Zhang, Jiangyang Xue, Danyan Zhuang, et al.
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