Detalhe da pesquisa
1.
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.
Ann Hematol
; 103(5): 1765-1774, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38509388
2.
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Dig Dis Sci
; 2024 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38564148
3.
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dubé syndrome.
J Med Genet
; 60(12): 1210-1214, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37468236
4.
Tailoring Oxidation Responsiveness of Gold Nanoclusters via Ligand Engineering for Imaging Acute Kidney Injury.
Anal Chem
; 95(44): 16153-16159, 2023 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37877516
5.
Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.
Thromb J
; 21(1): 3, 2023 Jan 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36624481
6.
Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
Neurol Sci
; 44(6): 2003-2015, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36689009
7.
A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.
J Gene Med
; 24(2): e3398, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34786791
8.
Eucarbwenstols A-H, eight novel compounds from Eucalyptus robusta prevents MPC-5 injury via ROS modulation and regulation of mitochondrial membrane potential.
Bioorg Chem
; 129: 106159, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36155091
9.
Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Neurol Sci
; 43(4): 2555-2563, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34783933
10.
Clinical and imaging features of six Han patients with SAPHO syndrome.
Acta Radiol
; : 2841851221142783, 2022 Dec 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36503262
11.
Clinical outcomes of uterine artery embolization and experience of postoperative transvaginal fibroid expulsion: a retrospective analysis.
Arch Gynecol Obstet
; 306(3): 829-840, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35122498
12.
A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1.
Thromb J
; 19(1): 64, 2021 Sep 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34496879
13.
A pedigree analysis of two homozygous mutant Gitelman syndrome cases.
Endocr J
; 62(1): 29-36, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25273610
14.
[Methylation in Promoter Region of SLC6A2 Gene in Heart Failure Patients and Its Correlation with Qi Deficiency/Blood Stasis Syndrome].
Zhongguo Zhong Xi Yi Jie He Za Zhi
; 35(12): 1448-54, 2015 Dec.
Artigo
Chinês
| MEDLINE | ID: mdl-26882606
15.
Relationship between Renying pulse augmentation index and Cunkou pulse condition in different blood pressure groups.
J Tradit Chin Med
; 34(3): 279-85, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24992754
16.
A correlation study between prostate necrosis rate calculated by 3D Slicer software and clinical efficacy of prostatic artery embolization, along with an analysis of predictors of clinical success after prostatic artery embolization.
Abdom Radiol (NY)
; 49(3): 927-938, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38158423
17.
Association between beta-blocker utilization and heart failure mortality in the peritoneal dialysis population: a cohort study.
Clin Kidney J
; 17(3): sfae022, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38444751
18.
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Sci Rep
; 14(1): 7638, 2024 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38561452
19.
[Design, synthesis and activities of novel benzothiazole derivatives containing arylpiperazine].
Yao Xue Xue Bao
; 48(8): 1259-65, 2013 Aug.
Artigo
Chinês
| MEDLINE | ID: mdl-24187833
20.
Safety and Efficacy of Transarterial Chemoembolization Combined with Tyrosine Kinase Inhibitor and Immune Checkpoint Inhibitors for Unresectable Hepatocellular Carcinoma: A Single Center Experience.
J Hepatocell Carcinoma
; 10: 883-892, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37324411