Lv3
283 积分 2020-10-03 加入
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene
14天前
已完结
LARS2和 HARS2基因致病变异所致的Perrault综合征分析
14天前
已完结
2例Perrault综合征的临床诊断分析
18天前
已完结
九例家族性高胆固醇血症患者的 LDLR基因突变检测
22天前
已完结
综合性携带者筛查关键问题专家共识(2024版)
26天前
已完结
Narrowing the Critical Region within 11q24–qter for Hypoplastic Left Heart and Identification of a Candidate Gene, JAM3, Expressed during Cardiogenesis
2个月前
已完结
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
2个月前
已完结
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes
2个月前
已完结
Neuronal FAM171A2 mediates α-synuclein fibril uptake and drives Parkinson’s disease
2个月前
已完结
低深度全基因组拷贝数变异测序产前诊断发现 DMD基因变异胎儿的遗传学分析
2个月前
已完结
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