Lv11
28 积分 2023-11-27 加入
Genomic Variant Annotation: A Comprehensive Review of Tools and Techniques
2小时前
待确认
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
6天前
已完结
[Clinical management guideline for 21-hydroxylase deficiency(2026)]
24天前
已完结
先天性肾上腺皮质增生症的全生命周期临床管理
28天前
已完结
A novel rearrangement of the α-globin gene cluster containing both the −α3.7 and ααααanti4.2 crossover junctions in a Chinese family
1个月前
已完结
The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing
3个月前
已完结
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
5个月前
已完结
Screening and treatment of thalassemia
5个月前
已完结
Het2Gene: a phenotype-driven model for gene prioritization by heterogeneous graph embedding
5个月前
已完结
An Agentic System for Rare Disease Diagnosis with Traceable Reasoning
7个月前
已完结
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