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50 积分 2024-11-23 加入
Pyrin‐associated autoinflammation with neutrophilic dermatosis: A case report
9天前
已完结
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
26天前
已完结
Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome
1个月前
已完结
The induced-fit and catalytic mechanisms of human G6PC1
1个月前
已完结
Adult-onset painful axonal polyneuropathy caused by a dominantNAGLUmutation
1个月前
已完结
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies
1个月前
已关闭
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations
1个月前
已完结
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
1个月前
已完结
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
1个月前
已完结
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
1个月前
已完结
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