Lv3
342 积分 2020-11-09 加入
[Ornithine transcarbamylase deficiency (OTCD)]
3天前
已关闭
Challenges in diagnosing and managing adult patients with urea cycle disorders
6天前
已完结
Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain
6天前
已完结
Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with the clinical and biochemical phenotype
6天前
已完结
Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations
11天前
已关闭
Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families
12天前
已完结
Early‐onset recurrent panniculitis as a phenotype of NLRC4‐associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445ProNLRC4 variant
22天前
已完结
Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis
24天前
已完结
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
1个月前
已关闭
The molecular genetics of erythropoietic protoporphyria
1个月前
已关闭
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