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70 积分 2025-03-27 加入
Measuring X inactivation skew for X-linked diseases with adaptive nanopore sequencing
1天前
已完结
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online
2天前
求助中
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
15天前
已完结
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
15天前
已完结
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
21天前
已完结
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online
21天前
已关闭
Diagnostic findings and yield of investigations for children with developmental regression
21天前
已完结
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants
23天前
已完结
Single gene non‐invasive prenatal screening for autosomal dominant conditions in a high‐risk cohort
24天前
已完结
The Use of DNA Methylation Profiling to Assess the Significance of Different Types of Mutations in CEBPA-Mutated AML
27天前
已关闭
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