Detalhe da pesquisa
1.
Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2-associated syndrome and a brief review of literature.
Am J Med Genet A
; 188(7): 2168-2172, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316582
2.
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome.
J Hum Genet
; 66(8): 825-829, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33526817
3.
Role of non-thyroidal illness syndrome in predicting adverse outcomes in COVID-19 patients predominantly of mild-to-moderate severity.
Clin Endocrinol (Oxf)
; 95(3): 469-477, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33813743
4.
Long COVID in Patients With Mild to Moderate Disease: Do Thyroid Function and Autoimmunity Play a Role?
Endocr Pract
; 27(9): 894-902, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237471
5.
Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Clin Genet
; 97(5): 747-757, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022900
6.
A tricyclic pyrrolobenzodiazepine produced by Klebsiella oxytoca is associated with cytotoxicity in antibiotic-associated hemorrhagic colitis.
J Biol Chem
; 292(47): 19503-19520, 2017 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28972161
7.
Metabolomic Profiling of Plasma from Melioidosis Patients Using UHPLC-QTOF MS Reveals Novel Biomarkers for Diagnosis.
Int J Mol Sci
; 17(3): 307, 2016 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26927094
8.
Metabolomic Profiling of Plasma from Patients with Tuberculosis by Use of Untargeted Mass Spectrometry Reveals Novel Biomarkers for Diagnosis.
J Clin Microbiol
; 53(12): 3750-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378277
9.
Metabolomics Analysis Reveals Specific Novel Tetrapeptide and Potential Anti-Inflammatory Metabolites in Pathogenic Aspergillus species.
Int J Mol Sci
; 16(6): 13850-67, 2015 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26090713
10.
DPYD genotype-guided dose individualisation of fluoropyrimidine therapy: who and how?
Lancet Oncol
; 20(2): e66, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712799
11.
Pleural effusion lipoproteins measured by NMR spectroscopy for diagnosis of exudative pleural effusions: a novel tool for pore-size estimation.
J Proteome Res
; 13(9): 4104-12, 2014 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25072840
12.
Untargeted mass spectrometry-based metabolomic profiling of pleural effusions: fatty acids as novel cancer biomarkers for malignant pleural effusions.
J Proteome Res
; 13(9): 4040-6, 2014 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25117182
13.
Misidentification of Aspergillus nomius and Aspergillus tamarii as Aspergillus flavus: characterization by internal transcribed spacer, ß-Tubulin, and calmodulin gene sequencing, metabolic fingerprinting, and matrix-assisted laser desorption ionization-time of flight mass spectrometry.
J Clin Microbiol
; 52(4): 1153-60, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24452174
14.
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.
Mol Genet Metab Rep
; 38: 101023, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38058766
15.
Inborn errors of metabolism and expanded newborn screening: review and update.
Crit Rev Clin Lab Sci
; 50(6): 142-62, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24295058
16.
Characterization of a Tsukamurella pseudo-outbreak by phenotypic tests, 16S rRNA sequencing, pulsed-field gel electrophoresis, and metabolic footprinting.
J Clin Microbiol
; 51(1): 334-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23135942
17.
Electrospray ionization on porous spraying tips for direct sample analysis by mass spectrometry: enhanced detection sensitivity and selectivity using hydrophobic/hydrophilic materials as spraying tips.
Rapid Commun Mass Spectrom
; 27(6): 713-21, 2013 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418151
18.
Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening.
Clin Chim Acta
; 551: 117621, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37925810
19.
A prospective follow-up on thyroid function, thyroid autoimmunity and long COVID among 250 COVID-19 survivors.
Endocrine
; 80(2): 380-391, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36596904
20.
A prospective follow-up of thyroid volume and thyroiditis features on ultrasonography among survivors of predominantly mild to moderate COVID-19.
PeerJ
; 11: e15034, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36949763