Detalhe da pesquisa
1.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
2.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
3.
Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management.
Clin Chem
; 67(12): 1606-1617, 2021 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633032
4.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
5.
Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.
JCI Insight
; 8(17)2023 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37490345