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58 积分 2024-12-02 加入
Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice
4天前
已完结
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH‐B) gene mutation carriers
8天前
已完结
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands
8天前
已完结
Germline SDHB Mutations and Familial Renal Cell Carcinoma
8天前
已完结
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]
12天前
已完结
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy
12天前
已完结
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
22天前
已完结
Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome
24天前
已完结
Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study
1个月前
已完结
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