Detalhe da pesquisa
1.
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
J Allergy Clin Immunol
; 150(6): 1556-1562, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35987349
2.
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
3.
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Genet Med
; 23(11): 2067-2075, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34257421
4.
Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.
J Community Genet
; 14(1): 17-25, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36609636
5.
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
6.
Correction to: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.
J Community Genet
; 14(1): 27, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36763325