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BMC Medical Genomics|October 18, 2024
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed casesLin Zhou, Ying Peng, Jing Chen, et al.
BMC Medical Genomics|October 11, 2024
Torsades de Pointes electrical storm in children with KCNH2 mutationsLi Zhang, Meng Xu, Zhen Yan, et al.
BMC Medical Genomics|July 17, 2024
A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing lossMin He, Miaomiao Hu, Qiang Zhang, et al.
BMC Medical Genomics|June 29, 2024
RNA-seq reveals differentially expressed lncRNAs and circRNAs and their associated functional network in HTR-8/Svneo cells under hypoxic conditionsJiaqing Zhou, YueHua Sheng, Zhezhan Chen, et al.
BMC Medical Genomics|July 8, 2024
Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndromeDuocai Wang, Meize Pan, Hang Li, et al.
BMC Medical Genomics|July 5, 2024
Genetic evidence for causal association between migraine and dementia: a mendelian randomization studyQiuyi Chen, Chengcheng Zhang, Shiyang Wu, et al.
BMC Medical Genomics|August 29, 2024
Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature reviewXueting Yang, Mengmeng Li, Qingwei Qi, et al.
BMC Medical Genomics|August 19, 2024
The causal effect of gut microbiota on hepatic encephalopathy: a mendelian randomization analysisJia-Lin Wu, Jun-Wei Chen, Ming-Sheng Huang, et al.
BMC Medical Genomics|August 12, 2024
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two casesJavier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, et al.
BMC Medical Genomics|August 12, 2024
Transcriptome analysis of the diseased intervertebral disc tissue in patients with spinal tuberculosisTian'en Xu, Wenjuan Fan, Cong Chen, et al.
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