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
em Inglês
| MEDLINE | ID: mdl-35753512
2.
A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development.
JCEM Case Rep
; 1(5): luad103, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37719339
3.
Cholesterol twists the transmembrane Di-Gly region of amyloid-precursor protein.
PNAS Nexus
; 2(5): pgad162, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37265546
4.
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Front Immunol
; 14: 1133387, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36875114
5.
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Front Immunol
; 14: 1172004, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37215141
6.
Artist's Statement: To Reflect.
Acad Med
; 98(10): 1139, 2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756143