Detalhe da pesquisa
1.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
2.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
3.
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.
J Clin Immunol
; 38(3): 234-236, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29524015
4.
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
J Exp Med
; 219(6)2022 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35442418