Lv2
138 积分 2024-01-09 加入
RYR1‐related myopathies: a wide spectrum of phenotypes throughout life
2天前
已完结
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation
8天前
已完结
Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene
14天前
已完结
Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns
15天前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
22天前
已完结
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition – An observational study from tertiary neonatal care unit in South India
28天前
已完结
Incompletely penetrant TRPM4‐associated progressive symmetric erythrokeratodermia responses to methotrexate
28天前
已完结
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
30天前
已完结
Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia
1个月前
已完结
BCS1L mutations produce Fanconi syndrome with developmental disability
1个月前
已完结
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