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.
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
Pediatr Nephrol
; 38(6): 1793-1800, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36357634
3.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Pediatr Nephrol
; 37(11): 2643-2656, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211795
4.
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
J Am Soc Nephrol
; 28(5): 1614-1621, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27932480
5.
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Kidney Int
; 91(4): 937-947, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28117080
6.
Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol
; 15(7): 983-994, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317330