Lv61
1840 积分 2023-01-30 加入
Blood mitochondrial DNA copy number: What are we counting?
4小时前
已完结
Emerging therapeutic approaches for Tourette syndrome and other tic disorders – a systematic review of current clinical trials
5天前
已完结
[Expert consensus on the application of low-depth whole genome sequencing in prenatal diagnosis]
16天前
已完结
Oxford Nanopore Third Generation Sequencing for Analysis of FMR1 5'UTR CGG Repeat Expansions
1个月前
已完结
Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development
1个月前
已完结
Mutations inRYR1in malignant hyperthermia and central core disease
1个月前
已完结
Quantifying the effect of reference genome choice
1个月前
已完结
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
1个月前
已关闭
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia
1个月前
已完结
Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation
1个月前
已完结
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