Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Convert your favorite protein modeling program into a mutation predictor: "MODICT".
Tanyalcin I et al.
Bmc Bioinformatics, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M et al.
Plos One, 2012
Mitochondrial fatty acid oxidation defects--remaining challenges.
Gregersen N et al.
Journal of Inherited Metabolic Disease, 2008
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
Andresen BS et al.
Human Molecular Genetics, 1997
Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels.
Iolascon A et al.
Journal of Medical Genetics, 1994
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
Horvath GA et al.
Canadian Journal of Public Health = Revue Canadienne De Sante Publique, 0
Select a paper to view details