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BMC Medical Genomics|December 7, 2021
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasiaKana Kitayama, Tomoya Ishiguro, Masaki Komiyama, et al.
BMC Medical Genomics|March 11, 2021
Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomalyMonika Szelest, Martyna Stefaniak, Gabriela Ręka, et al.
BMC Medical Genomics|October 25, 2022
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patientBin Zuo, Hongen Xu, Zhaoyu Pan, et al.
BMC Medical Genomics|November 2, 2022
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosisNipaporn Deejai, Nunghathai Sawasdee, Choochai Nettuwakul, et al.
BMC Medical Genomics|November 1, 2022
One novel ACOT7-NPHP4 fusion gene identified in one patient with acute lymphoblastic leukemia: a case reportXin Zong, Zhijie Kang, Dan Huang, et al.
BMC Medical Genomics|November 2, 2022
Alterations of DNA methylation and expression of genes related to thyroid hormone metabolism in colon epithelium of obese patientsGhazaleh Shimi, Katayoun Pourvali, Arman Ghorbani, et al.
BMC Medical Genomics|October 12, 2022
Ultra-sensitive molecular detection of gene fusions from RNA using ASPYREEleanor R Gray, Justyna M Mordaka, Efthimia R Christoforou, et al.
BMC Medical Genomics|October 20, 2022
Integrative analyses of immune-related biomarkers and associated mechanisms in coronary heart diseaseLianbo Zhang, Guibin Li, Bo Liang, et al.
BMC Medical Genomics|October 4, 2022
Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencingHusile Husile, Zhifeng Wu, Liqing Yang, et al.
BMC Medical Genomics|October 8, 2022
Identification of core genes and pathways between geriatric multimorbidity and renal insufficiency: potential therapeutic agents discovered using bioinformatics analysisLingyun Zhang, Jiasheng Cai, Jing Xiao, et al.
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