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期刊名:Global medical genetics

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ISSN:2699-9404

e-ISSN:2699-9404

IF/分区:1.5/Q4

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共收录本刊相关文章索引248
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Himanshu Singh,Magesh Kumar,Himanshu Kanungo Himanshu Singh
Acute myeloid leukemia (AML) is an immensely heterogeneous disease characterized by the clonal growth of promyelocytes or myeloblasts in bone marrow as well as in peripheral blood or tissue. Enhancement in the knowledge of the molecular bio...
Neha Verma,Shally Awasthi,Anuj K Pandey et al. Neha Verma et al.
Background Community-acquired pneumonia (CAP) is the leading cause of death in children < 5 years of age. The primary objective of the study was to assess the association of IL-1RA gene polymorphism in children aged 2 to 59 months with CAP ...
Sinem Yalcintepe,Yasemin Karal,Selma Demir et al. Sinem Yalcintepe et al.
This study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey. In this study, the frequency of deletions in exons 7 and 8 in t...
N Sreedevi,N Swapna,Santosh Maruthy et al. N Sreedevi et al.
Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy. The patient...
Himanshu Singh Himanshu Singh
Breast cancer is a multifactor, multistage, and heterogeneous disease. Systemic treatment of breast cancer has changed significantly over the last decade. With a better knowledge of the pathogenesis, researchers and scientists have discover...
Athanasios Michas,Basileios Michas,Anastasios Tsitsibis et al. Athanasios Michas et al.
Early detection of urothelial cancer offers the potential for effective and successful treatment. Despite previous efforts, currently, there is not a well-validated, recommended screening program in any country. This integrative, literature...
Lijun Fang,Jing Sun,Yongqiang Zhao et al. Lijun Fang et al.
Objective In this study, we aimed to evaluate the efficacy and safety of combination therapy, consisting of intravenous immunoglobulin (IVIg) and corticosteroids, in comparison to respective monotherapies in the treatment of relapsed immune...
Chen Yeh Chen Yeh
The molecular diagnostics industry has historically relied on sanitized clinical trials and commoditized data sources to inform its biomarker discovery and validation process-an under-substantiated approach that was ultra-expensive, resourc...
Darja Kanduc Darja Kanduc
Background and Aim Immune response against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in newborns and children after prophylactic immunization is currently a relevant research topic. The present study analyzes the issue by...
David Pomarino,Anna Emelina,Jens Heidrich et al. David Pomarino et al.
Idiopathic toe walking (ITW) describes a condition affecting approximately 4.5% of children. Toe walking is an accompanying symptom for many hereditary disorders. This retrospective study uses next-generation sequencing-panel-diagnosis to i...