Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1105
Abstract: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre‐implantation. The present study aims to identify the causative mutation in… read more here.
Keywords: col1a1 fetal; mutations col1a1; novel mutations; genetic skeletal ... See more keywords
The Two-Stage Ensemble Learning Model Based on Aggregated Facial Features in Screening for Fetal Genetic Diseases
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph20032377
Abstract: With the advancement of medicine, more and more researchers have turned their attention to the study of fetal genetic diseases in recent years. However, it is still a challenge to detect genetic diseases in the… read more here.
Keywords: learning model; genetic diseases; ensemble learning; stage ensemble ... See more keywords