Lv1
40 积分 2023-01-10 加入
Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease
25天前
已完结
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
1个月前
已完结
Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome
1个月前
已完结
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
1个月前
已完结
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2
2个月前
已完结
Solving the unsolved genetic epilepsies: Current and future perspectives
2个月前
已完结
Surgical outcomes of patients with genetically refractory epilepsy: A systematic review and meta-analysis
2个月前
已完结
From Human Pluripotent Stem Cells to Cortical Circuits
2个月前
已完结
Mutations in the holocarboxylase synthetase geneHLCS
2个月前
已完结
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency
2个月前
已完结
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