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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.
Article
in English
| MEDLINE | ID: mdl-38747677
2.
Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.
Prenat Diagn
; 43(10): 1366-1369, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37529930
3.
Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review.
Am J Med Genet A
; 188(3): 984-990, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34797027
4.
The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.
Am J Med Genet A
; 188(5): 1626-1629, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35001526
5.
KBG syndrome in a Chinese population: A case series.
Am J Med Genet A
; 188(6): 1693-1699, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35174959
6.
CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.
Am J Med Genet A
; 188(1): 130-137, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34558805
7.
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implications.
Am J Med Genet A
; 188(5): 1562-1567, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35179302
8.
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.
Article
in English
| MEDLINE | ID: mdl-33704902
9.
Rubinstein-Taybi syndrome in Chinese population with four novel mutations.
Am J Med Genet A
; 185(1): 267-273, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33063428
10.
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman.
Am J Med Genet A
; 185(3): 995-998, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33369179
11.
Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.
Am J Med Genet A
; 185(7): 2250-2261, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33768696
12.
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.
Article
in English
| MEDLINE | ID: mdl-33263187
13.
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.
Am J Med Genet A
; 185(2): 384-389, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33166031
14.
Prenatal phenotype of Kabuki syndrome: A case series and literature review.
Prenat Diagn
; 41(9): 1089-1100, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34185329
15.
CHARGE syndrome in nine patients from China.
Am J Med Genet A
; 182(1): 15-19, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31729160
16.
Mowat-Wilson syndrome in a Chinese population: A case series.
Am J Med Genet A
; 182(6): 1336-1341, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32196960
17.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A
; 182(12): 2939-2950, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32985117
18.
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.
Article
in English
| MEDLINE | ID: mdl-32059709
19.
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.
Article
in English
| MEDLINE | ID: mdl-30896080
20.
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.
Article
in English
| MEDLINE | ID: mdl-30903683