Detalhe da pesquisa
1.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
2.
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.
BMC Pregnancy Childbirth
; 20(1): 109, 2020 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32059709
3.
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
4.
Salvage Radical Prostatectomy for Recurrent Prostate Cancer: Morbidity and Functional Outcomes from a Large Multicenter Series of Open versus Robotic Approaches.
J Urol
; 202(4): 725-731, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31075058
5.
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
J Med Genet
; 55(12): 847-852, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007940
6.
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
Am J Med Genet A
; 173(4): 1109-1114, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328122
7.
Noonan syndrome in diverse populations.
Am J Med Genet A
; 173(9): 2323-2334, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748642
8.
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
9.
Echocardiographic Outcomes With Transcatheter Edge-to-Edge Repair for Degenerative Mitral Regurgitation in Prohibitive Surgical Risk Patients.
JACC Cardiovasc Imaging
; 17(5): 471-485, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38099912
10.
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.
Am J Med Genet A
; 176(11): 2523-2527, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289595
11.
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
12.
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
13.
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
14.
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.
Epilepsia Open
; 4(1): 63-72, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868116
15.
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
NPJ Genom Med
; 3: 19, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30109123
16.
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
17.
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
18.
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Mol Autism
; 8: 66, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29296277
19.
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Mol Autism
; 8: 31, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28670437
20.
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