Lv45
598 积分 2025-04-14 加入
Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness
2天前
已完结
Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees
2天前
已完结
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
2天前
已关闭
Retrospective study of 75 children with peripheral inherited neuropathy: Genotype–phenotype correlations
2天前
已完结
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations
2天前
已完结
Charcot-Marie-Tooth Disease Type 2A
2天前
已完结
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy
2天前
已完结
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort
2天前
已完结
Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients
3天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
3天前
已完结
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