Detalhe da pesquisa
1.
Insulin secretion deficits in a Prader-Willi syndrome ß-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones.
PLoS Genet
; 19(4): e1010710, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37068109
2.
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
J Inherit Metab Dis
; 45(3): 529-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218577
3.
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
Mol Genet Metab
; 134(1-2): 29-36, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34535384
4.
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing.
JCI Insight
; 5(20)2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055427