Detalhe da pesquisa
1.
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.
J Med Genet
; 60(10): 933-938, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012053
2.
Noninvasive Prenatal Screening for Common Fetal Aneuploidies Using Single-Molecule Sequencing.
Lab Invest
; 103(4): 100043, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36870287
3.
Integrated Bioinformatics Analysis to Screen Hub Gene Signatures for Fetal Growth Restriction.
Genet Res (Camb)
; 2023: 3367406, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37033160
4.
Cytosine-guanine-guanine repeats of FMR1 gene negatively affect ovarian reserve and response in Chinese women.
Reprod Biomed Online
; 49(1): 103779, 2023 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678742
5.
Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
J Gene Med
; 24(5): e3417, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338537
6.
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing.
Hum Mutat
; 42(11): 1429-1442, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273908
7.
Novel deep intronic and frameshift mutations causing a TRIP11-related disorder.
Am J Med Genet A
; 185(8): 2482-2487, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014608
8.
Galectin-1 expression in the serum and placenta of pregnant women with fetal growth restriction and its significance.
BMC Pregnancy Childbirth
; 21(1): 14, 2021 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407212
9.
Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age.
BMC Pregnancy Childbirth
; 21(1): 86, 2021 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33499806
10.
[Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome].
Sichuan Da Xue Xue Bao Yi Xue Ban
; 52(4): 711-715, 2021 Jul.
Artigo
em Chinês
| MEDLINE | ID: mdl-34323054
11.
Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform.
Hum Genomics
; 13(1): 1, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30606250
12.
[Genetic analysis of a child with Sotos syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(2): 127-130, 2020 Feb 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-32034736
13.
[Genetic diagnosis of a fetus with Dandy-Walker syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(1): 8-11, 2020 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-31922586
14.
[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 49(5): 574-580, 2020 Oct 25.
Artigo
em Chinês
| MEDLINE | ID: mdl-33210482
15.
[Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 49(5): 581-585, 2020 Oct 25.
Artigo
em Chinês
| MEDLINE | ID: mdl-33210483
16.
[Genetic analysis of a mosaic case with low proportion mutation of TSC2 gene].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 49(5): 586-590, 2020 Oct 25.
Artigo
em Chinês
| MEDLINE | ID: mdl-33210484
17.
[Prenatal diagnosis of a fetus with Phelan-McDermid syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 841-843, 2019 Aug 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-31400142
18.
[Association of maternal age with fetal sex chromosome aneuploidies].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 409-413, 2019 06 25.
Artigo
em Chinês
| MEDLINE | ID: mdl-31901045
19.
[Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 373-377, 2019 06 25.
Artigo
em Chinês
| MEDLINE | ID: mdl-31901039
20.
[Genetic analysis of a family of Van der Woude syndrome].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 378-383, 2019 06 25.
Artigo
em Chinês
| MEDLINE | ID: mdl-31901040