Lv32
283 积分 2022-01-25 加入
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
1小时前
待确认
PhenoLinker: Phenotype-gene link prediction and explanation using heterogeneous graph neural networks
3小时前
已完结
Next-generation sequencing and its application in diagnosis of retinitis pigmentosa
6天前
已完结
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives
6天前
已完结
Genotype-phenotype correlations of COL2A1 and COL11A1 patients
8天前
已完结
The carcinogenic air pollutant 3-nitrobenzanthrone induces GC to TA transversion mutations in human p53 sequences
10天前
已完结
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
25天前
已完结
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients
25天前
已关闭
Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype
1个月前
已完结
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
1个月前
已完结
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