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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232
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
Vijayashree Priyadharsini Jayaseelan,Paramasivam Arumugam Vijayashree Priyadharsini Jayaseelan
Statement of Problem MicroRNAs are small non-coding RNAs that regulate an array of functions by targeting crucial genes. A significant dysregulation in the TP53 profile has been observed in the head and neck squamous cell carcinoma (HNSCC) ...
Hafsa Yousif Solayman Essa,Gunay Kusaf,Ozel Yuruker et al. Hafsa Yousif Solayman Essa et al.
Colorectal cancer (CRC) is the leading cause of cancer death worldwide. A crucial process that initiates and progresses CRC is various epigenetic and genetic changes occurring in colon epithelial cells. Recently, huge progress has been made...
Mahmut Cerkez Ergoren,Gulten Tuncel,Cenk Serhan Ozverel et al. Mahmut Cerkez Ergoren et al.
Variants (Alfa, Gamma, Beta, and Delta) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are circulating worldwide. These variants of concerns share some common mutations but they also have distinguishing mutations. These mut...
Maria Grazia Pappalardo,Alessandra Di Nora,Andrea Giugno et al. Maria Grazia Pappalardo et al.
We reported the case of acute encephalopathy related to colonic acid treatment interruption in a 12-year-old female child presenting to our unit with episodes of vomiting, headache, irritability, acute confusional state, seizures, and left ...
Himanshu Singh,Vedant Patel Himanshu Singh
Because of active advancement in the field of biomedicine, people have in-depth knowledge of biological nature of malignant tumors and are able to recognized the overexpression of different molecules such as vascular endothelial growth fact...
Darja Kanduc Darja Kanduc
Epstein-Barr nuclear antigen 1 (EBNA1) protein synthesis is inhibited during Epstein-Barr virus (EBV) latency and is resumed in EBV (re)activation. In analyzing the molecular mechanisms underpinning the translation of EBNA1 in the human hos...
Preksha Sharma,Neha Sharma,Dhruva Sharma Preksha Sharma
Fanconi anemia (FA) is an autosomal recessive disorder, both genetically and phenotypically. It is characterized by chromosomal instability, progressive bone marrow failure, susceptibility to cancer, and various other congenital abnormaliti...
Drenushe Zhuri,Hakan Gurkan,Damla Eker et al. Drenushe Zhuri et al.
Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene...
Alessandra Di Nora,Greta De Costa,Alessia Di Mari et al. Alessandra Di Nora et al.
Diagnosis in children with physical and intellective anomalies is very challenging because of the wide spectrum of causes. Array-based comparative genomic hybridization (CGH) has acquired an important role in pediatric diagnostic work up. I...
Damla Eker,Hakan Gurkan,Yasemin Karal et al. Damla Eker et al.
Background Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles. Although the genotype-phenotype correlation can be established in ...