Detalhe da pesquisa
1.
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms.
Nucleic Acids Res
; 51(D1): D1168-D1178, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350663
2.
Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene.
Prenat Diagn
; 44(2): 251-254, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141042
3.
Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.
Prenat Diagn
; 44(2): 247-250, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596871
4.
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity.
Cell Biochem Funct
; 42(4): e4034, 2024 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715189
5.
Treatment Outcomes of Cesarean Scar Pregnancy Under a Novel Classification System: A Retrospective Cohort Study.
J Ultrasound Med
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634558
6.
Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results.
J Assist Reprod Genet
; 41(1): 171-184, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38102500
7.
Dyslexia-related loci are significantly associated with language and literacy in Chinese-English bilingual Hong Kong Chinese twins.
Hum Genet
; 142(10): 1519-1529, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37668838
8.
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
Hum Genet
; 142(3): 363-377, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526900
9.
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Am J Hum Genet
; 106(1): 129-136, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883644
10.
Genetic screening in patients with ovarian dysfunction.
Clin Genet
; 103(3): 352-357, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373164
11.
A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages.
Hum Reprod
; 38(8): 1628-1642, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37218343
12.
Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.
Fetal Diagn Ther
; 50(2): 84-91, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739862
13.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Am J Hum Genet
; 105(6): 1102-1111, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31679651
14.
Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong.
Cleft Palate Craniofac J
; : 10556656221128436, 2022 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36128746
15.
Deciphering the complexity of simple chromosomal insertions by genome sequencing.
Hum Genet
; 140(2): 361-380, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728808
16.
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
Genet Med
; 23(7): 1225-1233, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772221
17.
The role of chromosomal microarray and exome sequencing in prenatal diagnosis.
Curr Opin Obstet Gynecol
; 33(2): 148-155, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33620893
18.
The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings.
Acta Obstet Gynecol Scand
; 100(2): 235-243, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32981064
19.
Low-pass genome sequencing: a validated method in clinical cytogenetics.
Hum Genet
; 139(11): 1403-1415, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451733
20.
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Genet Med
; 22(3): 500-510, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447483