Detalhe da pesquisa
1.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30349098
2.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30696996
3.
Physical measurements of Chinese children in Hong Kong-A pilot study in preschools and kindergartens.
Am J Med Genet A
; 170(8): 2069-77, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27244049
4.
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Eur J Med Genet
; 61(4): 219-224, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29191498
5.
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Sci Rep
; 8(1): 2421, 2018 02 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29402968
6.
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Mol Genet Genomic Med
; 5(1): 40-49, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-28116329
7.
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.
NPJ Genom Med
; 1: 16033, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-29263819
8.
A prenatal case of split-hand malformation associated with 17p13.3 triplication - a dilemma in genetic counseling.
Eur J Med Genet
; 57(2-3): 81-4, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24380768
9.
The clinical impact of chromosomal microarray on paediatric care in Hong Kong.
PLoS One
; 9(10): e109629, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25333781