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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
; 2024 Apr 02.
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.
Derivative of cinnamic acid inhibits T3SS of Xanthomonas oryzae pv. oryzae through the HrpG-HrpX regulatory cascade.
Bioorg Chem
; 141: 106871, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37734193
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.
[Evaluation of the Short-Term Efficacy and Safety of Orelabrutinib Combined with High-Dose Methotrexate in the First-line Treatment of Elderly Patients with High Risk Primary Central Nervous System Lymphoma].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 31(6): 1714-1719, 2023 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-38071050
8.
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
9.
[Rituximab-Based Regimens for Treatment of Primary Gastric Diffuse Large B-Cell Lymphoma].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 30(3): 760-764, 2022 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-35680802
10.
Case report and analysis: Behçet's disease with lower extremity vein thrombosis and pseudoaneurysm.
Front Immunol
; 13: 949356, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36105822
11.
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
12.
Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation.
Front Cardiovasc Med
; 9: 887618, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35557526
13.
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
14.
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis.
World J Clin Cases
; 8(23): 5962-5975, 2020 Dec 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33344595
15.
[DA-EPOCH Chemotherapy Combined with G-CSF Effectively Mobilizes Autologous PBHSC in NHL Patients].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 25(6): 1670-1674, 2017 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-29262895
16.
SlyA regulates phytotoxin production and virulence in Dickeya zeae EC1.
Mol Plant Pathol
; 17(9): 1398-1408, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-26814706
17.
[Effect of bortezomib combined with bisphosphonates on bone metabolism index in multiple myeloma].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 21(6): 1482-5, 2013 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-24370033
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