Detalhe da pesquisa
1.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
2.
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
Hum Genomics
; 17(1): 91, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798624
3.
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
em Inglês
| MEDLINE | ID: mdl-38747677
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37529930
5.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Clin Genet
; 101(1): 127-133, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34612517
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179302
7.
Human placental exosomes induce maternal systemic immune tolerance by reprogramming circulating monocytes.
J Nanobiotechnology
; 20(1): 86, 2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35180876
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33166031
9.
Antenatal counselling of congenital surgical anomalies: A decade of experience in a local tertiary centre.
J Paediatr Child Health
; 57(5): 710-714, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33400340
10.
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
11.
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
em Inglês
| MEDLINE | ID: mdl-30903683
12.
Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study.
BMC Pregnancy Childbirth
; 19(1): 55, 2019 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30717698
13.
Optimal timing of hepatitis B virus DNA quantification and clinical predictors for higher viral load during pregnancy.
Acta Obstet Gynecol Scand
; 98(10): 1301-1306, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021394
14.
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
15.
Prenatal diagnosis of 5p deletion syndrome: Report of five cases.
J Obstet Gynaecol Res
; 45(4): 923-926, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932301
16.
A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin.
J Obstet Gynaecol Res
; 44(5): 955-959, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436108
17.
Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women.
Arch Gynecol Obstet
; 296(6): 1109-1116, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28988271
18.
First Report of a Novel Deletion Due to εγδß-Thalassemia in a Chinese Family.
Hemoglobin
; 41(3): 175-179, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28950778
19.
Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases.
Prenat Diagn
; 41(6): 697-700, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527400
20.
A Fetus with Hb Bart's Disease Due to Maternal Uniparental Disomy for Chromosome 16.
Hemoglobin
; 40(1): 66-9, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26574185