Lv31
222 积分 2020-11-09 加入
Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease
7小时前
已完结
Acute kidney injury after swimming: a pediatric case of McArdle disease
7小时前
已完结
A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease
8小时前
已关闭
Une maladie de McArdle révélée par une lombalgie aiguë
2天前
已完结
Novel human pathological mutations. Gene symbol: COL1A1. Disease: osteogenesis imperfecta
21天前
已关闭
Is there a relationship between Wolfram syndrome carrier status and suicide?
1个月前
已完结
Unraveling the genetic basis of MODY: insights from next-generation sequencing
1个月前
已完结
[Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene]
1个月前
已完结
ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
1个月前
已完结
ATM germline pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
1个月前
已完结
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