Detalhe da pesquisa
1.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062836
2.
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Genet Med
; 24(12): 2453-2463, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305856
3.
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
Brain
; 141(11): 3098-3114, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30256902
4.
Total Capture, Convection-Limited Nanofluidic Immunoassays Exhibiting Nanoconfinement Effects.
Anal Chem
; 90(5): 3211-3219, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29446612
5.
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.
Am J Med Genet A
; 176(5): 1195-1199, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681101
6.
A single-molecule ELISA device utilizing nanofluidics.
Analyst
; 143(4): 943-948, 2018 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364290
7.
A male with ganglioneuroblastoma cerebrospinal hemorrhages, cardiomyopathy, and retinopathy due to severe hypertension.
Pediatr Blood Cancer
; 70(8): e30327, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36975177
8.
An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.
Am J Med Genet A
; 173(4): 1124-1127, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328133
9.
Droplet-Free Digital Enzyme-Linked Immunosorbent Assay Based on a Tyramide Signal Amplification System.
Anal Chem
; 88(14): 7123-9, 2016 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27322525
10.
Extended nanofluidic immunochemical reaction with femtoliter sample volumes.
Small
; 10(8): 1514-22, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24339226
11.
Risk factors for acute pancreatitis in patients with severe motor and intellectual disabilities.
Pediatr Int
; 56(2): 240-3, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24476552
12.
An integrated genetic analysis of epileptogenic brain malformed lesions.
Acta Neuropathol Commun
; 11(1): 33, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864519
13.
Double recurrence of group B streptococcus bacteremia in an immunocompetent infant.
Pediatr Int
; 54(5): 701-3, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23005901
14.
Hybrid double-spiral microfluidic chip for RBC-lysis-free enrichment of rare cells from whole blood.
Lab Chip
; 22(22): 4418-4429, 2022 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305222
15.
An integrated high-throughput microfluidic circulatory fluorescence-activated cell sorting system (µ-CFACS) for the enrichment of rare cells.
Lab Chip
; 21(16): 3112-3127, 2021 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34286793
16.
A case of urinary tract infection caused by Kluyvera ascorbata in an infant: case report and review of the literature.
J Infect Chemother
; 16(6): 436-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20454915
17.
Integrated system for detection and molecular characterization of circulating tumor cells.
PLoS One
; 15(8): e0237506, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32790768
18.
KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report.
Brain Dev
; 42(8): 607-611, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32505479
19.
Graft linker immobilization for spatial control of protein immobilization inside fused microchips.
Electrophoresis
; 30(24): 4251-5, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20013908
20.
[Fulminating meningitis caused by Haemophilus influenzae with rapid progression of severe brain edema similar to acute encephalopathy].
No To Hattatsu
; 41(6): 447-51, 2009 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-19928544