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60 积分 2025-12-07 加入
Achondroplasia
30天前
已完结
Life expectancy in the Marfan syndrome
1个月前
已完结
Silver-Russell Syndrome – Part I: Clinical Characteristics and Genetic Background
7个月前
已关闭
A long-term survivor of campomelic dysplasia with 46,XY disorder of sex development and hypogonadotropic hypogonadism
7个月前
已关闭
Campomelic dysplasia
7个月前
已完结
SACS基因新发纯合突变致Charlevoix-Saguenay型常染色体隐性痉挛性共济失调一家系研究
8个月前
已完结
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology
8个月前
已完结
Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks
9个月前
已关闭
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing
9个月前
已完结
Population-level insights into repeat-associated ataxias from UK Biobank whole-genome sequencing
9个月前
已完结
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