Detalhe da pesquisa
1.
Clinical characteristics of unvaccinated or incompletely vaccinated children with neurological manifestations due to SARS-CoV-2 Omicron infection.
J Med Virol
; 95(7): e28895, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403902
2.
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
Int J Neonatal Screen
; 10(1)2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535127
3.
Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.
Int J Neonatal Screen
; 9(3)2023 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606482
4.
Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad.
Case Rep Genet
; 2022: 4153357, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35502402
5.
Guillain-Barré syndrome in children - High occurrence of Miller Fisher syndrome in East Asian region.
Brain Dev
; 44(10): 715-724, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906115
6.
X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family.
Clin Chim Acta
; 521: 285-288, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331950
7.
Exome sequencing in paediatric patients with movement disorders.
Orphanet J Rare Dis
; 16(1): 32, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33446253
8.
Anti-N-methyl-d-aspartate receptor encephalitis in children: Incidence and experience in Hong Kong.
Brain Dev
; 40(6): 473-479, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599011
9.
Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients.
BMC Res Notes
; 10(1): 351, 2017 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754168
10.
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
Clin Transl Med
; 5(1): 18, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27271878
11.
Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.
Clin Chim Acta
; 451(Pt B): 292-6, 2015 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485252
12.
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.
Clin Neurol Neurosurg
; 199: 106258, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33031988