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.
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
6.
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
7.
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
8.
Clinical and imaging features of six Han patients with SAPHO syndrome.
Acta Radiol
; : 2841851221142783, 2022 Dec 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36503262
9.
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
10.
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
11.
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
12.
Improved staining of phosphoproteins with high sensitivity in polyacrylamide gels using Stains-All.
Electrophoresis
; 34(24): 3277-86, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24114871
13.
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
14.
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
15.
Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis.
Pediatr Rheumatol Online J
; 21(1): 130, 2023 Oct 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37872565
16.
Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant.
Front Pediatr
; 10: 878172, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35601416
17.
Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A.
Cardiol Res Pract
; 2022: 9716045, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35529058
18.
Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
Cell Death Dis
; 13(6): 518, 2022 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35654784
19.
A Primary Extraskeletal Osteosarcoma of the Spleen: Rare Case Report.
Front Oncol
; 12: 892943, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35586491
20.
Rare Cases of Bronchial Aneurysm and Comparison of Interventional Embolization in the Treatment of True Bronchial Aneurysm and Pseudobronchial Aneurysm.
Front Cardiovasc Med
; 9: 856684, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35355974