Detalhe da pesquisa
1.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med;
25(1): 125-134, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36350326
2.
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
J Inherit Metab Dis;
45(4): 682-695, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35546254
3.
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
J Inherit Metab Dis;
41(3): 337-353, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29453510
4.
QualitySNPng: a user-friendly SNP detection and visualization tool.
Nucleic Acids Res;
41(Web Server issue): W587-90, 2013 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23632165
5.
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Metabolites;
11(9)2021 Aug 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34564390