Lv5
1326 积分 2024-08-12 加入
A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability
17天前
已完结
Longitudinal Nitric Oxide Levels and Infections by Ultrastructure and Genotype in Primary Ciliary Dyskinesia
4个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
5个月前
已完结
Functional Analysis of Novel Variants Located in the Tetramerization Loop of <i>ACAT1</i>
5个月前
已关闭
[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I]
8个月前
已关闭
A diagnostic flow chart forPOLG-related diseases based on signs sensitivity and specificity
8个月前
已关闭
Type 1 Tyrosinaemia
9个月前
已关闭
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]
9个月前
已完结
Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB
9个月前
已完结
ASM variants in the spotlight: A structure-based atlas for unraveling pathogenic mechanisms in lysosomal acid sphingomyelinase
9个月前
已完结
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