Detalhe da pesquisa
1.
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.
J Inherit Metab Dis
; 39(2): 309-19, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26830550
2.
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
BMC Cancer
; 15: 841, 2015 Nov 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26530098
3.
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
BMC Med Genet
; 15: 14, 2014 Jan 23.
Artigo
Inglês
| MEDLINE | ID: mdl-24451042
4.
Genetic variation in the interleukin-28B gene is not associated with fibrosis progression in patients with chronic hepatitis C and known date of infection.
Hepatology
; 54(4): 1127-34, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21721028
5.
Dual role of anti-TNF therapy: enhancement of TCR-mediated T cell activation in peripheral blood and inhibition of inflammation in target tissues.
Clin Immunol
; 139(2): 164-76, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21334981
6.
Genome-wide analysis of DNA methylation, copy number variation, and gene expression in monozygotic twins discordant for primary biliary cirrhosis.
Front Immunol
; 5: 128, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24734033
7.
Identification of new hematopoietic cell subsets with a polyclonal antibody library specific for neglected proteins.
PLoS One
; 7(4): e34395, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22496798
8.
Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.
Mol Genet Metab
; 86 Suppl 1: S153-5, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16290004