Lv1
30 积分 2023-01-10 加入
Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome
1天前
已完结
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
12天前
已完结
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2
21天前
已完结
Solving the unsolved genetic epilepsies: Current and future perspectives
1个月前
已完结
Surgical outcomes of patients with genetically refractory epilepsy: A systematic review and meta-analysis
1个月前
已完结
From Human Pluripotent Stem Cells to Cortical Circuits
1个月前
已完结
Mutations in the holocarboxylase synthetase geneHLCS
1个月前
已完结
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency
1个月前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
1个月前
已完结
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands
1个月前
已完结
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