Lv3
283 积分 2022-01-25 加入
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield
2个月前
已完结
The Reliability of Ultrasound Markers in Identifying Fetuses With a Life‐Limiting Skeletal Dysplasia
2个月前
已完结
Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality
2个月前
已完结
A sonographic approach to the prenatal diagnosis of skeletal dysplasias
2个月前
已完结
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
11个月前
已完结
PhenoLinker: Phenotype-gene link prediction and explanation using heterogeneous graph neural networks
11个月前
已完结
Next-generation sequencing and its application in diagnosis of retinitis pigmentosa
11个月前
已完结
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives
11个月前
已完结
Genotype-phenotype correlations of COL2A1 and COL11A1 patients
11个月前
已完结
The carcinogenic air pollutant 3-nitrobenzanthrone induces GC to TA transversion mutations in human p53 sequences
1年前
已完结
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