Detalhe da pesquisa
1.
A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family.
Clin Genet;
103(4): 413-423, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36537221
2.
[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
38(11): 1132-1135, 2021 Nov 10.
Artigo
em Zh
| MEDLINE
| ID: mdl-34729759
3.
[Retrospective analysis and mining of data from 10 840 patients undergoing non-invasive prenatal screening].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
37(10): 1074-1078, 2020 Oct 10.
Artigo
em Zh
| MEDLINE
| ID: mdl-32924104
4.
Profile of HBV Integration in the Plasma DNA of Hepatocellular Carcinoma Patients.
Curr Genomics;
20(1): 61-68, 2019 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31015792
5.
Development and clinical validation of a circulating tumor DNA test for the identification of clinically actionable mutations in nonsmall cell lung cancer.
Genes Chromosomes Cancer;
57(4): 211-220, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29277949
6.
Multiplex sequencing of pooled mitochondrial genomes-a crucial step toward biodiversity analysis using mito-metagenomics.
Nucleic Acids Res;
42(22): e166, 2014 Dec 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25294837
7.
Effect of mouse oocyte vitrification on mitochondrial membrane potential and distribution.
J Huazhong Univ Sci Technolog Med Sci;
34(1): 99-102, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24496686
8.
Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities.
Front Genet;
15: 1387724, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38846960
9.
An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.
NPJ Genom Med;
9(1): 32, 2024 May 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38811629
10.
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.
Gene;
819: 146258, 2022 Apr 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35114279
11.
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Front Genet;
13: 941364, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35910219
12.
Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing.
Front Genet;
13: 802865, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35265103
13.
Efficacy of Oxidized Regenerated Cellulose/Collagen Dressing for Management of Skin Wounds: A Systematic Review and Meta-Analysis.
Evid Based Complement Alternat Med;
2021: 1058671, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34394376
14.
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases.
BMC Med Genomics;
14(1): 106, 2021 04 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33853619
15.
Identification of copy number variants by NGS-based NIPT at low sequencing depth.
Eur J Obstet Gynecol Reprod Biol;
256: 297-301, 2021 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33310305
16.
Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients.
Front Cell Dev Biol;
9: 661599, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34504838
17.
Targeted molecular profiling of genetic alterations in colorectal cancer using next-generation sequencing.
Oncol Lett;
19(2): 1137-1144, 2020 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31966042
18.
LIM kinase1 regulates mitotic centrosome integrity via its activity on dynein light intermediate chains.
Open Biol;
8(6)2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29925632
19.
Characteristic of HPV Integration in the Genome and Transcriptome of Cervical Cancer Tissues.
Biomed Res Int;
2018: 6242173, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30018982
20.
MDH2 Stimulated by Estrogen-GPR30 Pathway Down-Regulated PTEN Expression Promoting the Proliferation and Invasion of Cells in Endometrial Cancer.
Transl Oncol;
10(2): 203-210, 2017 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28189066