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120 积分 2025-09-05 加入
Six Different Point Mutations in Seven Danish Families with Symptomatic Protein C Deficiency
30天前
已完结
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
1个月前
已完结
Genetic and clinical analysis of Chinese pediatric patients with cystinuria
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update
2个月前
已完结
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2
2个月前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
2个月前
已完结
LAMB2 mutation with different phenotypes in China
2个月前
已完结
Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye
2个月前
已完结
Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis
2个月前
已完结
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