Detalhe da pesquisa
1.
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.
Am J Med Genet A
; : e63657, 2024 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38747677
2.
Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS.
Cleft Palate Craniofac J
; 61(1): 33-39, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35898178
3.
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome).
Am J Med Genet A
; 185(6): 1925-1931, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33704902
4.
Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.
Am J Med Genet A
; 185(7): 2250-2261, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33768696
5.
Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
Am J Med Genet A
; 185(2): 636-646, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33263187
6.
Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.
Am J Med Genet A
; 185(3): 675-686, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33314698
7.
Prenatal phenotype of Kabuki syndrome: A case series and literature review.
Prenat Diagn
; 41(9): 1089-1100, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-34185329
8.
CHARGE syndrome in nine patients from China.
Am J Med Genet A
; 182(1): 15-19, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31729160
9.
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
Inglês
| MEDLINE | ID: mdl-30896080
10.
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
Am J Med Genet C Semin Med Genet
; 181(2): 196-207, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30903683
11.
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration.
Ophthalmic Genet
; 44(4): 403-407, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36330599
12.
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.
Front Genet
; 13: 803088, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35495136
13.
First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing.
Genes (Basel)
; 12(3)2021 03 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33807602