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.
Left ventricular stiffness in paediatric patients with end-stage kidney disease.
Pediatr Nephrol
; 35(6): 1051-1060, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32016625
3.
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
J Hum Genet
; 56(8): 617-21, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21697855
4.
Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies.
Clin Chim Acta
; 504: 81-87, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027886
5.
Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy.
Clin Chim Acta
; 497: 88-94, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31325447
6.
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
7.
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
8.
Oscillometric 24-h ambulatory blood pressure reference values in Hong Kong Chinese children and adolescents.
J Hypertens
; 32(3): 606-19, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24445392
9.
Cardiac ryanodine receptor gene (hRyR2) mutation underlying catecholaminergic polymorphic ventricular tachycardia in a Chinese adolescent presenting with sudden cardiac arrest and cardiac syncope.
Chin Med J (Engl)
; 119(24): 2129-33, 2006 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17199967
10.
Early detection of Berry syndrome in a newborn with differential cyanosis.
Chin Med J (Engl)
; 119(17): 1485-8, 2006 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-16989753
11.
Severe acute respiratory syndrome among children.
Pediatrics
; 113(6): e535-43, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15173534