Detalhe da pesquisa
1.
Cell-Free Exploration of the Natural Product Chemical Space.
Chembiochem
; 22(1): 84-91, 2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783358
2.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med
; 22(3): 490-499, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607746
3.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
JAMA
; 312(18): 1880-7, 2014 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326637
4.
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Mol Genet Metab
; 110(4): 477-83, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24103308
5.
GlycoCAP: A Cell-Free, Bacterial Glycosylation Platform for Building Clickable Azido-Sialoglycoproteins.
ACS Synth Biol
; 12(4): 1264-1274, 2023 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37040463
6.
A Low-Cost, Thermostable, Cell-Free Protein Synthesis Platform for On-Demand Production of Conjugate Vaccines.
ACS Synth Biol
; 12(1): 95-107, 2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36548479
7.
A low-cost recombinant glycoconjugate vaccine confers immunogenicity and protection against enterotoxigenic Escherichia coli infections in mice.
Front Mol Biosci
; 10: 1085887, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36936989
8.
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Genet Med
; 19(12)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28933790
9.
Ocular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy.
Am J Ophthalmol Case Rep
; 25: 101305, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243129
10.
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
Mol Genet Metab
; 102(2): 149-52, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21093335
11.
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Am J Med Genet A
; 155A(1): 22-32, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204207
12.
The Proteasome as a Drug Target in the Metazoan Pathogen, Schistosoma mansoni.
ACS Infect Dis
; 5(10): 1802-1812, 2019 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31355632
13.
Ornithine transcarbamylase deficiency: are carrier females suitable donors?
Pediatr Transplant
; 16(6): 525-7, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22672071
14.
Viral shedding patterns of coronavirus in patients with probable severe acute respiratory syndrome.
Lancet
; 363(9422): 1699-700, 2004 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-15158632
15.
Routine use of a simple low-cost genotypic assay for the identification of mycobacteria in a high throughput laboratory.
Diagn Microbiol Infect Dis
; 47(2): 421-6, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14522516
16.
Expanded newborn screening for inborn errors of metabolism: overview and outcomes.
Adv Pediatr
; 59(1): 209-45, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22789580
17.
Correlation of norovirus variants with epidemics of acute viral gastroenteritis in Hong Kong.
J Med Virol
; 78(11): 1473-9, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16998893
18.
Coordination of peroxisomal beta-oxidation and fatty acid elongation in HepG2 cells.
J Biol Chem
; 279(40): 41302-9, 2004 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15277519
19.
High rate and changing molecular epidemiology pattern of norovirus infections in sporadic cases and outbreaks of gastroenteritis in Hong Kong.
J Med Virol
; 73(1): 113-7, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15042657