Detalhe da pesquisa
1.
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.
J Clin Immunol
; 43(1): 181-191, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36155879
2.
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.
Proc Natl Acad Sci U S A
; 116(33): 16463-16472, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31346092
3.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rß1 Deficiency.
J Clin Immunol
; 38(5): 617-627, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29995221
4.
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Hum Mutat
; 38(10): 1355-1359, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28585352
5.
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
J Allergy Clin Immunol
; 147(2): 734-737, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531373
6.
Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.
Pediatr Allergy Immunol
; 25(8): 817-9, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25283056
7.
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.
Medicine (Baltimore)
; 91(4): e1-e19, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22751495