Detalhe da pesquisa
1.
A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy.
Ann Hum Genet;
83(2): 95-99, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30276801
2.
RTN3 deficiency exacerbates cisplatin-induced acute kidney injury through the disruption of mitochondrial stability.
Mitochondrion;
75: 101851, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38336146
3.
Profiles of HBcrAg and pgRNA in Pregnant Women With Chronic HBV Under Different Disease Phases and Antiviral Prophylaxis.
Open Forum Infect Dis;
11(5): ofae241, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38756766
4.
Correction to: Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK-IDH2 pathway.
MedComm (2020);
5(2): e466, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38318159
5.
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.
Front Genet;
14: 1205052, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38028608
6.
Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia.
Front Genet;
14: 1146932, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37180972
7.
Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK-IDH2 pathway.
MedComm (2020);
4(2): e226, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36925557
8.
Postoperative clinical outcomes of patients with thymic epithelial tumors after over-3-year follow-up at a single-center.
J Cardiothorac Surg;
18(1): 77, 2023 Feb 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36810094
9.
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Front Cardiovasc Med;
9: 971501, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36277747
10.
Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy.
Front Genet;
13: 964990, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36685872
11.
The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations.
Front Genet;
13: 1031856, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36685982
12.
Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.
Exp Ther Med;
21(5): 510, 2021 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33791019
13.
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.
Front Pediatr;
9: 774575, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34912761
14.
Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.
Front Pediatr;
9: 687455, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34408996
15.
The genetic spectrum of familial hypercholesterolemia in the central south region of China.
Atherosclerosis;
258: 84-88, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28235710
16.
[Effects of acupuncture at different periods on circadian rhythms of locomotor activity and core body temperature in hamsters].
Zhongguo Zhen Jiu;
25(6): 417-9, 2005 Jun.
Artigo
em Zh
| MEDLINE
| ID: mdl-16309088