Lv12
70 积分 2024-11-12 加入
A (dis)integrated stress response: Genetic diseases of eIF2α regulators
5小时前
已完结
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients
6小时前
已完结
Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review
6小时前
已关闭
Outcome of Liver Transplantation for Neonatal-onset Citrullinemia Type I
5天前
已完结
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
21天前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
25天前
已完结
Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review
1个月前
已关闭
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy
8个月前
已关闭
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
8个月前
已完结
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