Detalhe da pesquisa
1.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
2.
Vertical gaze palsy and intraoral numbness in a patient with neuro-psychiatric systemic lupus erythematosus: A case report and literature review.
Lupus
; 29(13): 1811-1814, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32791932
3.
The distinct associations of ingroup attachment and glorification with responses to the coronavirus pandemic: Evidence from a multilevel investigation in 21 countries.
Br J Soc Psychol
; 62(2): 992-1012, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36507575
4.
Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug.
Case Rep Pediatr
; 2022: 7414628, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35664544
5.
Trust in scientific information mediates associations between conservatism and coronavirus responses in the U.S., but few other nations.
Sci Rep
; 12(1): 3724, 2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260605
6.
Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome.
Clin Chim Acta
; 496: 93-99, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31271740
7.
Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.
Clin Chim Acta
; 469: 63-68, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343847
8.
Neurologic and radiologic manifestations of three girls surviving acute carbon monoxide poisoning.
J Child Neurol
; 21(9): 737-41, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16970876
9.
Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease.
Brain Dev
; 28(6): 389-91, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16376043
10.
Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
Dev Med Child Neurol
; 52(10): e243-4, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20370815
11.
Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1.
Pediatr Neurol
; 109: 91-93, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32299749
12.
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.
Child Neurol Open
; 2(2): 2329048X15585345, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503591
13.
Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.
Clin Dysmorphol
; 21(2): 64-68, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258436
14.
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
J Child Neurol
; 26(2): 179-87, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20823027
15.
Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene.
Chin Med J (Engl)
; 118(10): 873-6, 2005 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-15989773
16.
Risk of vitamin A toxicity from candy-like chewable vitamin supplements for children.
Pediatrics
; 118(2): 820-4, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16882846