Detalhe da pesquisa
1.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
2.
Identification of Potential Modulators of a Pathogenic G Protein-Gated Inwardly Rectifying K+ Channel 4 Mutant: In Silico Investigation in the Context of Drug Discovery for Hypertension.
Molecules
; 28(24)2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38138436
3.
The role of novel COQ8B mutations in glomerulopathy and related kidney defects.
Am J Med Genet A
; 185(1): 60-67, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33084234
4.
Congenital nephrotic syndrome.
J Perinatol
; 41(12): 2704-2712, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983935