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BMC Medical Genomics|January 3, 2024
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing lossKaifeng Zheng, Sheng Lin, Jian Gao, et al.
BMC Medical Genomics|December 13, 2023
Association of lncRNA THRIL, HOTAIR genes variations and expression levels with pulmonary tuberculosisLi-Jun Wang, Rui Li, Tian-Ping Zhang, et al.
BMC Medical Genomics|December 1, 2023
Specific expression profile of follicular fluid-derived exosomal microRNAs in patients with diminished ovarian reserveKai-Yuan Shen, Xiao-Li Dai, Shun Li, et al.
BMC Medical Genomics|February 12, 2024
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature reviewMohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, et al.
BMC Medical Genomics|February 2, 2024
A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD familyMing-Xia Sun, Miao Jing, Ying Hua, et al.
BMC Medical Genomics|January 23, 2024
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidusLukáš Strych, Monika Černá, Markéta Hejnalová, et al.
BMC Medical Genomics|January 29, 2024
Whole genome sequencing in clinical practiceFrederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, et al.
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