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BMC Medical Genomics|January 7, 2023
A pyroptosis-related gene signature provides an alternative for predicting the prognosis of patients with hepatocellular carcinomaDezhao Lin, Zhuoyan Chen, Yuan Zeng, et al.
BMC Medical Genomics|January 12, 2023
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndromeYue Shen, Chao Lu, Tingting Cheng, et al.
BMC Medical Genomics|January 17, 2023
A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese familyWei Xu, Ming Xu, Qinqin Yin, et al.
BMC Medical Genomics|January 9, 2023
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizuresJianlong Zhuang, Meihua Xie, Jianfeng Yao, et al.
BMC Medical Genomics|December 19, 2022
Transcriptomics and metabolomics reveal changes in the regulatory mechanisms of osteosarcoma under different culture methods in vitroSen Yang, Zhi Tian, Yi Feng, et al.
BMC Medical Genomics|December 21, 2022
Identification of key genes and miRNAs related to polycystic ovary syndrome by comprehensive analysis of microarrayZiqian Sun, Yang Wang, Tianshu Wei, et al.
BMC Medical Genomics|December 21, 2022
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype associationMaria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, et al.
BMC Medical Genomics|June 16, 2022
Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafnessSima Rayat, Mohammad Farhadi, Hessamaldin Emamdjomeh, et al.
BMC Medical Genomics|June 6, 2022
Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case reportJincheng Dai, Jun Zeng, Hongxi Tan, et al.
BMC Medical Genomics|December 1, 2022
Identification of the miRNA-mRNA regulatory network associated with radiosensitivity in esophageal cancer based on integrative analysis of the TCGA and GEO dataHongmin Chen, Xiaoxiao Shi, Li Ren, et al.
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