Detalles de la búsqueda
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.
Artículo
en Inglés
| 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
; 69(6): 2109-2122, 2024 Jun.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37468236
4.
Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.
Thromb J
; 21(1): 3, 2023 Jan 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36624481
5.
Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
Neurol Sci
; 44(6): 2003-2015, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36689009
6.
A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.
J Gene Med
; 24(2): e3398, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34786791
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36155091
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34783933
9.
Clinical and imaging features of six Han patients with SAPHO syndrome.
Acta Radiol
; : 2841851221142783, 2022 Dec 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36503262
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35122498
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34496879
12.
[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.
Artículo
en Zh
| MEDLINE | ID: mdl-26882606
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38158423
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38561452
15.
[Design, synthesis and activities of novel benzothiazole derivatives containing arylpiperazine].
Yao Xue Xue Bao
; 48(8): 1259-65, 2013 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-24187833
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37324411
17.
Eighteen cases of renal aneurysms: Clinical retrospective analysis and experience of endovascular interventional treatment.
Front Surg
; 10: 1106682, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36925508
18.
Pharmarcomechanical thrombectomy combined with transluminal balloon angioplasty for treating transplant renal vein thrombosis.
Sci Rep
; 13(1): 17303, 2023 10 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37828079
19.
Safety and Efficacy of Drug-Eluting Bead Transarterial Chemoembolization Combined with Lenvatinib and Anti-PD-1 Antibodies for Unresectable Hepatocellular Carcinoma: A Retrospective Analysis.
J Hepatocell Carcinoma
; 10: 807-820, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37292114
20.
Case Report: Imaging features of a new type double inferior vena cava malformation and review.
Front Cardiovasc Med
; 10: 1298071, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38111887