國家衛生研究院 NHRI:
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    近3年内发表的文件:15(10.87%)
    含全文笔数:134(97.10%)

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    显示项目1-25 / 138. (共6页)
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    日期题名關聯
    2024-10-02 Next-generation integrated sequencing identifies poor prognostic factors in patients with MYD88-mutated chronic lymphocytic leukemia in Taiwan Pathobiology. 2024 Oct 02;Article in press.
    2023-11 Genetic factors contribute to the phenotypic variability in GJB2-related hearing impairment Journal of Molecular Diagnostics. 2023 Nov;25(11):827-837.
    2023-06 Outbreak investigation in a COVID-19 designated hospital: The combination of phylogenetic analysis and field epidemiology study suggesting airborne transmission Journal of Microbiology, Immunology, and Infection. 2023 Jun;56(3):547-557.
    2023-04-17 HBV DNA integration into telomerase or MLL4 genes and TERT promoter point mutation as three independent signatures in subgrouping HBV-related HCC with distinct features Liver Cancer. 2023 Apr 17;13(1):41-55.
    2023-02 Lymphocyte disturbance and functional assessment of the [Asp521Asn] ZAP70 mutation Clinical Immunology. 2023 Feb;247:Article number 109236.
    2023-02 Trans-ethnic comprehensive genomic cluster stratification of upper tract urothelial carcinoma European Urology. 2023 Feb;83(Suppl. 1):S1695.
    2023 Emergence and persistent dominance of SARS-CoV-2 omicron BA.2.3.7 variant, Taiwan Emerging Infectious Diseases. 2023;29(4):792-796.
    2022-12 Genomic profiling with whole-exome sequencing revealed distinct mutations and novel pathways in Asian melanoma Journal of Dermatology. 2022 Dec;49(12):1299-1309.
    2022-10 Protein O-fucosyltransferase-1 mutation in familial Dowling-Degos Disease concomitant with atopic dermatitis Dermatologica Sinica. 2022 Oct-Dec;40(4):251-252.
    2022-08-17 Disclosing an in-frame deletion of the titin gene as the possible predisposing factor of anthracycline-induced cardiomyopathy: A case report International Journal of Molecular Sciences. 2022 Aug 17;23(16):Article number 9261.
    2022-05-25 High-throughput sequencing of complementarity determining region 3 in the heavy chain of B-cell receptor in renal transplant recipients: A preliminary Report Journal of Clinical Medicine. 2022 May 25;11(11):Article number 2980.
    2022-03-04 EGFR mutation-harboring lung cancer cells produce CLEC11A with endothelial trophic and tumor-promoting activities Cancers. 2022 Mar 4;14(5):Article number 1356.
    2022-03 A clinical and integrated genetic study of isolated and combined dystonia in Taiwan Journal of Molecular Diagnostics. 2022 Mar;24(3):262-273.
    2022-01 Novel ADAR1 mutations in three cases of psoriasis coexisting with dyschromatosis symmetrica hereditaria Journal of the European Academy of Dermatology and Venereology. 2022 Jan;36(1):e54-e57.
    2022-01 Artificial-intelligence-assisted discovery of genetic factors for precision medicine of antiplatelet therapy in diabetic peripheral artery disease Biomedicines. 2022 Jan;10:Article number 116.
    2021-09-26 Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48) Journal of Biomedical Science. 2021 Sep 26;28:Article number 65.
    2021-07 Complex movement disorders in a boy with PURA syndrome Movement Disorders Clinical Practice. 2021 Jul 8;8(7):1137-1139.
    2021-01-12 Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes Scientific Reports. 2021 Jan 12;11:Article number 478.
    2020-12 Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay Molecular Genetics and Metabolism Reports. 2020 Dec;25:Article number 100686.
    2020-10 Increased mcr-1 in pathogenic Escherichia coli from diseased swine, Taiwan Journal of Microbiology, Immunology and Infection. 2020 Oct;53(5):751-756.
    2019-08-20 A novel BTK gene mutation in a child with atypical X-linked agammaglobulinemia and recurrent hemophagocytosis: A case report Frontiers in Immunology. 2019 Aug 20;10:Article number 1953.
    2018-07 Wild-type p53 upregulates an early onset breast cancer-associated gene GAS7 to suppress metastasis via GAS7-CYFIP1-mediated signaling pathway Oncogene. 2018 Jul;37(30):4137-4150.
    2018-07 GATA3 mutation of luminal-type breast cancer patients in Taiwan Cancer Research. 2018 Jul;78(13, Suppl.):Meeting Abstract 3439.
    2017-12 Shared IgG infection signatures vs. hemorrhage-restricted IgA clusters in human dengue: A phenotype of differential class-switch via TGF beta 1 Frontiers in Immunology. 2017 Dec;8:Article number 1726.
    2017-11-21 CISD2 haploinsufficiency disrupts calcium homeostasis, causes nonalcoholic fatty liver disease, and promotes hepatocellular carcinoma Cell Reports. 2017 Nov 21;21(8):2198-2211.

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