Detalhe da pesquisa
1.
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.
J Allergy Clin Immunol
; 152(5): 1336-1344.e5, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37544411
2.
Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.
Neuropediatrics
; 53(6): 432-435, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35817355
3.
Targeting of heme oxygenase-1 as a novel immune regulator of neuroblastoma.
Int J Cancer
; 138(8): 2030-42, 2016 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26595750
4.
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies.
Pediatr Res
; 75(4): 527-34, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24366516
5.
Zbtb4 represses transcription of P21CIP1 and controls the cellular response to p53 activation.
EMBO J
; 27(11): 1563-74, 2008 Jun 04.
Artigo
Inglês
| MEDLINE | ID: mdl-18451802
6.
A yellowish subconjunctival lesion in an infant-congenital orbital fat herniation.
Eur J Pediatr
; 169(11): 1427-8, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20645109
7.
The coamplification pattern of the MYCN amplicon is an invariable attribute of most MYCN-amplified human neuroblastomas.
Clin Cancer Res
; 12(24): 7316-21, 2006 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17189403
8.
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
Aging (Albany NY)
; 5(6): 445-59, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23804595
9.
Detection of human tumor cells by amplicon fusion site polymerase chain reaction (AFS-PCR).
J Clin Invest
; 121(2): 545-53, 2011 02.
Artigo
Inglês
| MEDLINE | ID: mdl-21293059