Detalhe da pesquisa
1.
Clinical Exome Studies Have Inconsistent Coverage.
Clin Chem
; 66(1): 199-206, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609854
2.
A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.
Cytogenet Genome Res
; 159(1): 19-25, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31487712
3.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
bioRxiv
; 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168314