官方服务：
资源简介：
BAM files run on a custom DMD panel for neuromuscular disorders
应用场景：
创建时间：
2025-07-13
相关数据集
Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease) precludes exhaustive clinical testing, prioritizing sequen
NIAID Data Ecosystem60
Statistical analysis of the muscle-specific miRNA levels in the serum of healthy participants and DM1 patients.
Statistical analysis of the muscle-specific miRNA levels in the serum of healthy participants and DM1 patients.
NIAID Data Ecosystem40
Additional file 4 of MicroRNA and mRNA profiling in the idiopathic inflammatory myopathies
Additional file 4 GOseq analysis of differentially expressed genes in idiopathic inflammatory myopathy patients versus controls PM Polymyositis, DM Dermatomyositis, IBM Inclusion body myositis, Anti-J
Figshare2020-06-10 更新20
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population
Sarcoglycanopathies (SGCs) which are caused by mutations in SGCA, SGCB, SGCG or SGCD genes are a subgroup of autosomal-recessive limb-girdle-muscular-dystrophies (LGMD2). Although frequencies of mutat
Figshare2018-12-04 更新40
Molecular Diagnostics of Genetic Myopathy in Indian Subcontinent using Exome sequencing. Molecular Diagnostics of Genetic Myopathy in Indian Subcontinent
ObjectiveInherited myopathies comprise more than 200 different individually rare disease-subtypes but when combined together have a high prevalence of 1 in 6000 individuals across the world. Our goal
NIAID Data Ecosystem20
