Detalhe da pesquisa
1.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503300
2.
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience.
Eur J Pediatr
; 181(5): 1997-2004, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35118517