Detalhe da pesquisa
1.
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
J Allergy Clin Immunol
; 150(4): 947-954, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35753512
2.
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Front Immunol
; 14: 1172004, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37215141
3.
The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome.
Blood Adv
; 6(13): 3974-3978, 2022 07 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35476126