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30 积分 2024-11-23 加入
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review
18小时前
待确认
[Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy]
1天前
已完结
Genetic diseases underlying a spectrum of fetal effusions
12天前
已完结
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels
1个月前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
Pyrin‐associated autoinflammation with neutrophilic dermatosis: A case report
2个月前
已完结
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
2个月前
已完结
Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome
2个月前
已完结
The induced-fit and catalytic mechanisms of human G6PC1
3个月前
已完结
Adult-onset painful axonal polyneuropathy caused by a dominantNAGLUmutation
3个月前
已完结
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