Detalhe da pesquisa
1.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
J Am Soc Nephrol
; 33(4): 732-745, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35149593
2.
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
Clin Genet
; 98(4): 402-407, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32683677
3.
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.
J Lipid Res
; 59(11): 2214-2222, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30135217
4.
The Role of Extracellular Signal-Regulated Kinase Pathways in Different Models of Cardiac Hypertrophy in Rats.
Biomedicines
; 11(9)2023 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37760779