Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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