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30 积分 2023-11-16 加入
Recent advances in neurometabolic diseases: The genetic role in the modern era
9小时前
求助中
Rapid Targeted Genomics in Critically Ill Newborns
12小时前
已完结
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection]
3天前
已完结
[Consensus on the application of clinical whole genome sequencing in the diagnosis of genetic diseases]
3天前
已完结
[Clinical practice guidelines for Prader-Willi syndrome]
1个月前
已完结
[Expert consensus on the diagnosis and treatment of Leigh syndrome (2023)]
4个月前
已完结
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene
4个月前
已完结
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor
4个月前
已完结
Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis
4个月前
已完结
Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia
4个月前
已完结
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