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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,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 ...
Darja Kanduc Darja Kanduc
Background Contrary to immunological expectations, decay of adaptive responses against severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) characterizes recovered patients compared with patients who had a severe disease course or d...
Mahamad Irfanulla Khan,Prashanth Cs,Narasimhamurty Srinath Mahamad Irfanulla Khan
Non-syndromic cleft lip and palate (NSCLP) is one of the most common birth defects in humans with an overall prevalence of ∼1 in 700 live births around the world. The etiology of NSCLP is complex involving multiple genes, environmental fac...
Tufan Tukek,Sacide Pehlivan,Yasemin Oyaci et al. Tufan Tukek et al.
Mannose-binding lectin 2 (MBL2) is a serine protease which is believed to be an important factor in the inherited immune system. In this article, we present a coronavirus disease 2019 (COVID-19) family of five patients: a 56-year-old father...