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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
Pengcheng Yi,Quanting Yin,Huanhuan Zhang et al. Pengcheng Yi et al.
Metabolic syndromes (MeS), marked by central obesity, high blood pressure, abnormal cholesterol and blood sugar, are key cardiovascular disease (especially coronary artery disease, CAD) risk factors. Genetic studies show MeS-CAD genetic ove...
David Pomarino,Kevin M Rostásy,Bastian Fregien et al. David Pomarino et al.
Background: The Peripheral Myelin Protein 22 (PMP22) gene plays a central role in peripheral nerve myelination, and dosage alterations (deletion, duplication, or point mutation) are established causes of hereditary neurop...
Xiaoqing Cao,Yong Wang,Yurou Kang et al. Xiaoqing Cao et al.
Objective: This study aimed to evaluate the association of single nucleotide polymorphisms (SNPs) in IKZF1, ARID5B, and CEBPE with acute lymphoblastic leukemia (ALL) susceptibility in Chinese children. ...
Yan Zhang,Wenlong Shen,Yaer Lv et al. Yan Zhang et al.
Objective: To characterize the clinical features of a fetus with postaxial polydactyly caused by a de novo PRKACB gene variant and to perform a genetic analysis. ...
Xiao-Yue Tang,Jia-Huan Chen,Ran Yang et al. Xiao-Yue Tang et al.
Background: Terminal erythroid differentiation (TED) is the maturation process of proerythroblasts into enucleated erythrocytes. Animal models are essential for studying red blood cell disorders. ...
David Pomarino,Kevin M Rostásy,Bastian Fregien et al. David Pomarino et al.
Purpose: Persistent toe walking in children is often considered idiopathic; however, increasing evidence suggests that alterations in the PMP22 gene-implicated in Charcot-Marie-Tooth disease type 1 A (CMT1A) and Hereditar...
Dhruv Parikh,Manan Shah Dhruv Parikh
Glioblastoma (GB) remains the most aggressive and treatment-resistant primary brain tumor, characterized by extensive heterogeneity, therapeutic resistance, and dismal prognosis. In this comprehensive review, we aimed to synthesize emerging...
Ke Li,JuanJuan Liu,Kuo Zhang et al. Ke Li et al.
Severely infected patients produce large amounts of inflammatory cytokines, such as interleukin-6 (IL-6) and interleukin-1β (IL-1β), leading to a "cytokine storm", which is a clinically refractory condition. Because IL-6 and IL-1β differ...
Ankit Srivastava,Gaurav Kant,Manish Pratap Singh et al. Ankit Srivastava et al.
Background: Early-stage diagnosis, absence of specific reliable biomarkers, and better clinical management of colorectal cancer (CRC) remain major challenges. The Rspondin2 (RSPO2) gene is one of the most potent enablers ...
Sultana Akter,Ridwan Olamilekan Adesola,Shreya Basnet Sultana Akter
Cancer remains a leading cause of morbidity and mortality worldwide, with nearly 10 million deaths reported in 2022. In the United States, more than 618,000 deaths are projected to occur in 2025. Traditional methods for identifying cancer t...