Detalhe da pesquisa
1.
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.
J Clin Immunol
; 42(3): 559-571, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000057
2.
Absent X-linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non-coding deletion.
Pediatr Int
; 64(1): e14892, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145698
3.
A deep intronic mutation of c.1166-285â¯Tâ¯>â¯G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).
Clin Immunol
; 208: 108256, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494288
4.
A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.
Clin Immunol
; 174: 24-31, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27856304
5.
Sub-100 nm carriers by template polymerization for drug delivery applications.
Nanoscale Horiz
; 9(5): 693-707, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38497369