https://www.mayo.edu/research/centers-programs/genetics-epigenetics-metabolomics-core/services/mutation-screening-cystic-disease-genes
Mutation Screening of Cystic Disease Genes - Genetics Epigenetics and Metabolomics Core - Mayo...
The Genetics, Epigenetics and Metabolomics Core at Mayo Clinic offers mutation screening services for different polycystic kidney disease (PKD) population...
mutation screening
https://www.fhi.no/en/publ/2018/Diagnostic-accuracy-clinical-effectiveness-and-budget-impact-of-screening-BRCA1-2-mutation-carriers-by-MRI/
Diagnostic accuracy, clinical effectiveness and budget impact of screening BRCA1/2 mutation...
This is a HTA of the diagnostic accuracy, clinical effectiveness and budget impact of breast cancer screening using MRI in combination with mammography, for...
diagnostic accuracyclinical effectiveness
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1049816/full
Frontiers | Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns...
Phenylalanine hydroxylase deficiency (PAHD) is autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase...
mutation analysisphenylalanine hydroxylasefrontiersscreening
https://www.endocrine.org/journals/jcem/genetics-of-congenital-isolated-tsh-deficiency
Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and...
The mutation screening study covering the five causative genes of congenital i-TSHD was performed, showing that the IGSF1 defect was the leading genetic cause...
https://www.news-medical.net/news/2004/04/18/618.aspx
Researchers find drug that may suppress genetic mutation using a novel screening approach
Apr 18, 2004 - Researchers at Massachusetts General Hospital have developed a way of identifying promising new drugs that may get around a major challenge in drug discovery.
https://openreview.net/forum?id=xCNovqDTiT&referrer=%5Bthe%20profile%20of%20Gabriele%20Campanella%5D(%2Fprofile%3Fid%3D~Gabriele_Campanella1)
DEMO: A Scalable Artificial Intelligence Framework for Rapid EGFR Mutation Screening in Lung Cancer...
This paper presents two approaches to predict Epidermal Growth Factor Receptor (EGFR) mutation status in non-small cell lung cancer (NSCLC) patients from...