Detalhe da pesquisa
1.
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Am J Med Genet C Semin Med Genet
; 181(2): 208-217, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896080
2.
Noonan syndrome in diverse populations.
Am J Med Genet A
; 173(9): 2323-2334, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748642
3.
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Hum Mutat
; 37(2): 160-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26549411
4.
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Mol Genet Genomic Med
; 8(5): e1205, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154989
5.
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Lancet Reg Health West Pac
; 1: 100001, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327338
6.
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Parkinsonism Relat Disord
; 63: 42-45, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670339
7.
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
BMC Med Genomics
; 11(1): 93, 2018 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30359267
8.
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Sci Rep
; 8(1): 2421, 2018 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29402968
9.
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Mol Genet Genomic Med
; 5(1): 40-49, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28116329
10.
Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome.
Eur J Med Genet
; 59(11): 573-576, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27705751
11.
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.
NPJ Genom Med
; 1: 16033, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263819