Lv3
202 积分 2024-07-18 加入
Extending the clinical utility of exome sequencing: reanalysis, variant reclassification, and dynamic reporting in molecular diagnosis
1天前
求助中
Exploiting amplification byproducts to enable colorimetric ctDNA detection via nanozyme inhibition
1天前
已完结
A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family
4天前
已完结
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies
8天前
已完结
TSC2/PKD1 Contiguous Gene Deletion Syndrome: A Case Series
8天前
已完结
新生儿基因筛查阳性者确诊、排除及随访专家共识(2026版)
9天前
已完结
Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly
11天前
已完结
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
11天前
已完结
Expanding the ATP2B3 Phenotype: Progressive Dystonia and Basal Ganglia Atrophy
16天前
已关闭
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