Detalhe da pesquisa
1.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185323
2.
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
Am J Med Genet A
; 182(6): 1460-1465, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267060