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BMC Medical Genomics|August 17, 2023
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from ChinaLulu Yan, Juan Cao, Yuxin Zhang, et al.
BMC Medical Genomics|January 11, 2024
Identifying hub genes of sepsis-associated and hepatic encephalopathies based on bioinformatic analysis-focus on the two common encephalopathies of septic cirrhotic patients in ICUJuan Li, Dong Yang, Shengmei Ge, et al.
BMC Medical Genomics|January 23, 2024
A consideration of CYP2D6 genetic variations in the Ghanaian population as a potential 'culprit' for the tramadol 'abuse crisis'Nicholas Ekow Thomford, Susanna Aba Abraham, Samuel Badu Nyarko, et al.
BMC Medical Genomics|January 24, 2024
Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case studyRuijue Zhu, Mingming Zhu, Boye Wang, et al.
BMC Medical Genomics|January 23, 2024
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populationsZsófia Flóra Nagy, Margit Pál, József I Engelhardt, et al.
BMC Medical Genomics|January 10, 2024
Identification of breast cancer subgroups and immune characterization based on glutamine metabolism-related genesHongjing Yu, Junchen Liu
BMC Medical Genomics|January 3, 2024
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 ThaisWanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk
BMC Medical Genomics|January 3, 2024
Hepatoid adenocarcinoma in ureter with next-generation sequencing: A case report and literature reviewMengxin Lu, Yueying Li, Dongliang Hu, et al.
BMC Medical Genomics|January 3, 2024
Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han populationYujie Mao, Hong Wei, Yugang Gong, et al.
BMC Medical Genomics|January 3, 2024
Integrated multi-omic analysis and experiment reveals the role of endoplasmic reticulum stress in lung adenocarcinomaYing Liu, Wei Lin, Hongyan Qian, et al.
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