Lv52
975 积分 2021-01-13 加入
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
16天前
已关闭
Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing
17天前
已完结
ATP6AP2 ‐Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female
28天前
已完结
Phenotypic variation of a new P0 mutation in genetically identical twins
1个月前
已完结
Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation
1个月前
已完结
Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy
1个月前
已完结
Genetic architecture of thoracic aortic dissection in the female population
2个月前
已完结
Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome
2个月前
已完结
Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene
3个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
3个月前
已完结
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